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Antioxidant defences and homeostasis of reactive oxygen speciesin different human mitochondrial DNA-depleted cell lines Lodovica Vergani1, Maura Floreani2, Aaron Russell3, Mara Ceccon1,

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Antioxidant defences and homeostasis of reactive oxygen species

in different human mitochondrial DNA-depleted cell lines

Lodovica Vergani1, Maura Floreani2, Aaron Russell3, Mara Ceccon1, Eleonora Napoli4, Anna Cabrelle5, Lucia Valente2, Federica Bragantini1, Bertrand Leger3and Federica Dabbeni-Sala2

1

Dipartimento di Scienze Neurologiche and2Dipartimento di Farmacologia e Anestesiologia, Universita` di Padova, Padova, Italy;

3

Clinique Romande de Re´adaptation SUVA Care, Sion, Switzerland;4E.Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy;5Dipartimento di Medicina Clinica, Universita` di Padova, c/o Istituto Veneto di Medicina Molecolare, Padova, Italy

Three pairs of parental (q+) and established mitochondrial

DNA depleted (q0) cells, derived from bone, lung and muscle

were used to verify the influence of the nuclear background

and the lack of efficient mitochondrial respiratory chain on

antioxidant defences and homeostasis of intracellular

reactive oxygen species (ROS) Mitochondrial DNA

deple-tion significantly lowered glutathione reductase activity,

glutathione (GSH) content, and consistently altered the

GSH2: oxidized glutathione ratio in all of the q0cell lines,

albeit to differing extents, indicating the most oxidized redox

state in bone q0cells Activity, as well as gene expression and

protein content, of superoxide dismutase showed a decrease

in bone and muscle q0cell lines but not in lung q0cells GSH

peroxidase activity was four times higher in all three q0cell

lines in comparison to the parental q+, suggesting that

this may be a necessary adaptation for survival without a

functional respiratory chain Taken together, these data suggest that the lack of respiratory chain prompts the cells to reduce their need for antioxidant defences in a tissue-specific manner, exposing them to a major risk of oxidative injury In fact bone-derived q0cells displayed the highest steady-state level of intracellular ROS (measured directly by 2¢,7¢-di-chlorofluorescin, or indirectly by aconitase activity) com-pared to all the other q+and q0cells, both in the presence or absence of glucose Analysis of mitochondrial and cytosolic/ iron regulatory protein-1 aconitase indicated that most ROS of bone q0 cells originate from sources other than mitochondria

Keywords: A549 q0cells; antioxidant defences; 143 q0cells; reactive oxygen species; rhabdomyosarcoma q0cells

Cellular reactive oxygen species (ROS), such as superoxide

anions (OÆ2)

1 , and hydrogen peroxide (H2O2), have long

been held to be harmful by-products of life in an aerobic

environment ROS are potentially toxic because they are

highly reactive and modify several types of cellular

macro-molecules Lipid, protein and DNA damage can lead to

cytotoxicity and mutagenesis [1] Therefore, cells have evolved elaborate defence systems to counteract the effects

of ROS These include both nonenzymatic (glutathione, pyridine nucleotides, ascorbate, retinoic acid, thioredoxin and tocopherol) and enzymatic (such as superoxide dis-mutases, catalase, glutathione peroxidase and peroxi-redoxin) pathways, which limit the rate of oxidation and thereby protect cells from oxidative stress [1,2] Notwith-standing, evidence is emerging that ROS also act as signals

or mediators in many cellular processes, such as cell pro-liferation, differentiation, apoptosis, and senescence [3–5] The redox environment of a cell may alter the balance between apoptosis and mitosis by affecting gene expression and enzyme activity [6] Consequently, cellular redox state is increasingly accepted as a key mediator of multiple meta-bolic, signalling and transcriptional pathways essential for normal function and cell survival or programmed cell death [3–6]

Mitochondria are certainly the major cellular site for oxygen reduction and hence the site with the greatest potential for ROS formation An estimated 0.4–0.8% [7]

to 2–4% [8] of the total oxygen consumed during electron transport is reduced not to water by cytochrome c oxidase but rather to superoxide by complexes I, and III of the respiratory chain [1,7,8] ROS production increases when respiratory flux is depressed by a high ATP/ADP ratio, high electronegativity of auto-oxidizable redox carriers in

Correspondence to L Vergani, Dipartimento di Scienze Neurologiche,

Universita` di Padova, c/o Istituto Veneto di Medicina Molecolare,

Via Orus 2, 35129 Padova, Italy Fax: +39 049 7923271,

Tel.: +39 049 7923219, E-mail: lodovica.vergani@unipd.it

Abbreviations: CS, citrate synthase; CuZnSOD, copper zinc

super-oxide dismutase; DCF, 2¢,7¢-dichlorofluorescin; DTT, 1,4-dithio- DL

-threitol; GSH, glutathione; GSSG, oxidized glutathione; GPx, GSH

peroxidase; GR, GSSG reductase; GST, GSH transferase; H 2

-DCF-DA, 2¢,7¢-dichlorofluorescin-diacetate; IRP-1, iron regulatory

protein-1; LDH, lactate dehydrogenase; MFI, mean log fluorescence intensity;

MnSOD, manganese superoxide dismutase; MPA, metaphosphoric

acid; mt, mitochondrial; NBT, nitroblue tetrazolium; PMRS, plasma

membrane oxidoreductase system; PBN,

N-tert-butyl-a-phenyl-nitrone; ROS, reactive oxygen species; SOD, superoxide dismutase.

Enzymes: catalase (EC 1.11.1.6); GSH peroxidase (EC 1.11.1.9);

GSSG reductase (EC 1.8.1.7); GSH transferase (EC 2.5.1.18); Mn

superoxide dismutase, CuZn superoxide dismutase, superoxide

dismutase (EC 1.15.1.1).

(Received 26 April 2004, revised 16 July 2004, accepted 23 July 2004)

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complex I and III, or a rise in oxygen tension (state 4

respiration) Defects in respiratory complexes [9] and

normal aging [10] also lead to increased mitochondrial

ROS production A recent study [11] indicates that

mitochondrial ROS homeostasis plays a key role in the

life and death of eukaryotic cells, as mitochondria not

only respond to ROS but also release ROS in response to

a number of pro-apoptotic stimuli However,

mitochon-dria are not the sole source of cellular ROS ROS also

form in the cytosol and in peroxisomes as by-products of

specific oxidases [7,10] The plasma membrane

oxido-reductase system (PMRS) also influences cellular redox

state [12,13]

Mitochondria are partially autonomous organelles; they

possess DNA, which contributes essential proteins to the

oxidative phosphorylation system In vitro mammalian

cells can be depleted entirely of their mitochondrial DNA,

creating so-called q0 cells [14,15] Rho0 cells lack a

functional electron transport chain and appear incapable

of generating ATP from mitochondria Moreover, it is still

a debated question [16] whether or not q0 cells may

generate ROS at the mitochondrial level Therefore, q0

cells may require alternative mechanisms for energy supply

and for maintenance of an appropriate redox environment

[17,18] Analysis of q0 cells has provided insights into

oxygen metabolism [13,17,19–21] and the role of

mito-chondria in redox signalling during apoptosis [22,23]

Redox-sensitive signalling and sensitivity to oxidative

stress depend on the cell type and its antioxidant systems,

due to differential tissue expression of nuclear genes [24]

There are no reports that compare antioxidant defences

and ROS homeostasis between mitochondrial

(mt)DNA-depleted cells with different nuclear backgrounds In this

study, soluble and enzymatic antioxidant systems and

ROS steady-state level were characterized in three tumour

cell lines derived from bone (osteosarcoma, 143B), muscle

(rhabdomyosarcoma, RD) and lung (adenocarcinoma,

A549) and in the respective q0cells: 143Bq0(bone), RDq0

(muscle) and A549q0 (lung) cells This approach was

undertaken to investigate the effect of the absence of

electron transport chain on cellular redox homeostasis,

with the hypothesis that ROS levels could be altered in

consequence of the ablation of an efficient respiratory

chain We aimed to verify: (a) if q0 status requires

antioxidant defence systems as efficient as those of normal

q+ cells; (b) if nuclear background influences redox

homeostatis in the different cell lines, precursors of

cytoplasmic hybrids (cybrids), that are useful tool for

studies of mtDNA segregation [25,26]

Experimental procedures

Materials

All reagents and enzymes were from Sigma NaCl/Pifrom

Oxoid had the following composition: NaCl 8 gÆL)1, KCl

0.2 gÆL)1, Na2HPO4 1.15 gÆL)1 and KH2PO4 0.2 gÆL)1

(pH 7.3) Tissue culture reagents were purchased from

Gibco-Invitrogen Co Reverse transcription was performed

using the Stratascript enzyme (Stratagene)

2¢,7¢-Dichloro-fluorescin-diacetate (H2-DCF-DA) was from Molecular

Probes

Cell lines and culture conditions The q+wild-type osteosarcoma cells (143B) and the q0cells derived from 143B were a gift from G Attardi (Division of Biology, California Institute of Technology, Pasadena, CA, USA)

2 [14], RD and RDq0cells were established by Vergani

et al [27], lung carcinoma (A549) and the derived q0cells were a gift from I J Holt (MRC, Dunn Human Nutrition Unit, Cambridge, UK)

Dulbecco’s modified Eagle’s medium containing 4.5 gÆL)1 glucose, 110 mgÆL)1 pyruvate, supplemented with 10% (v/v)

4 fetal bovine serum, 100 unitsÆmL)1 penicillin, and 0.1 mgÆmL)1streptomycin, at 37C in a humidified atmo-sphere of 5% CO2 The medium for q0cells was additionally supplemented with 50 lgÆmL)1 uridine The absence of mtDNA in these three cell lines was reconfirmed at several time points throughout the study by PCR as described previously [14,25,27] Routinely, 2· 106 q+ or q0 cells were seeded on 100 mm diameter plates and harvested after 42–48 h of culture during the period of exponential growth Subcellular fraction preparation

In some experiments regarding aconitase reactivation (see below), 40· 106 cells suspended in 0.8 mL were treated with digitonin (0.5 mgÆmL)1) in NaCl/Pifor 15 min on ice The samples were centrifuged at 17 000 g for 15 min at

4C, the supernatant (cytosolic fraction) and the pellet (mitochondria-enriched fraction), as well as the whole cells, were recovered, immediately frozen in liquid N2and stored

at)80 C Aliquots, kept at )80 C for up to 2 weeks, were thawed immediately before the assay, as reported previously [28] As markers of cytosolic and mitochondria-enriched fractions, lactate dehydrogenase (LDH) [29] and citrate synthase (CS) [30] activities were assayed in total cells and in cytosolic and mitochondria-enriched fractions, respectively

In mitochondria-enriched fractions CS activity was twice the value found in the whole cells, whereas cytosolic contamination, checked by measuring LDH, ranged from

10 to 30% In the cytosolic fractions the contamination of mitochondria, checked by measuring CS activity, was about 10% of the value found in whole cells

Antioxidant defences Glutathione and oxidized glutathione amounts Cellular glutathione (GSH) and oxidized glutathione (GSSG) levels were measured enzymatically by using a modification of the procedure of Anderson, as described [31,32] The assay is based on the determination of a chromophoric product, 2-nitro-5-thiobenzoic acid, resulting from the reaction of 5,5¢-dithiobis-(2-nitrobenzoic acid) with GSH In this reaction, GSH is oxidized to GSSG, which is then reconverted to GSH in the presence of glutathione reductase and NADPH The rate of 2-nitro-5-thiobenzoic acid formation is measured spectrophotometrically at 412 nm The cells (about 5–6· 106 cells) were washed once with NaCl/Pi and treated with 6% (v/v) metaphosphoric acid (MPA) (1 mLÆdish)1) at room temperature After 10 min the acid extract was collected, centrifuged for 5 min at

18 000 g at 4C and processed The cellular debris remaining on the plate were solubilized with 0.5 KOH

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and assayed for their protein content [33] For total

glutathione determination, the above acid extract was

diluted (1 : 6) in 6% (v/v) MPA; thereafter to 0.1 mL of

supernatant, 0.75 mL 0.1M potassium phosphate, 5 mM

EDTA buffer pH 7.4, 0.05 mL 10 mM

5,5¢-dithiobis-2-nitrobenzoic acid (prepared in 0.1Mphosphate buffer) and

0.08 mL 5 mM NADPH were added After a 3 min

equilibration period at 25C, the reaction was started by

the addition of 2 U glutathione reductase (type III, Sigma,

from bakers yeast, diluted in 0.1M phosphate/EDTA

buffer) Product formation was recorded continuously at

412 nm (for 3 min at 25C) with a Shimadzu UV-160

spectrophotometer The total amount of GSH in the

samples was determined from a standard curve obtained

by plotting known amounts (from 0.05 to 0.4 lgÆmL)1) of

GSH vs the rate of change of absorbance at 412 nm GSH

standards were prepared daily in 6% (v/v) MPA and diluted

in phosphate/EDTA buffer pH 7.4 For GSSG

measure-ment, soon after preparation the supernatant of acid extract

was treated for derivatization with 2-vinylpiridine at room

temperature for 60 min In a typical experiment, 0.15 mL of

supernatant was treated with 3 lL of undiluted

2-vinyl-pyridine Nine microliters of triethanolamine were also

added, the mixture was vigorously mixed, and the pH was

checked; it was generally between 6 and 7 After 60 min,

0.1 mL aliquots of the samples were assayed by means of

the procedure described above for total GSH measurement

The amount of GSSG was quantified from a standard curve

obtained by plotting known amounts of GSSG (from 0.05

to 0.20 lgÆmL)1) vs the rate of change of absorbance GSH

present in the samples was calculated as the difference

between total glutathione and GSSG levels

Antioxidant enzyme activities GSH peroxidase (GPx),

GSSG reductase (GR), catalase, superoxide dismutase

(SOD) and GSH transferase (GST) activities were measured

in monolayer cells (about 2–3· 106 cells), washed three

times with NaCl/Pi before treatment directly on the dish

with 0.25M sucrose, 10 mM Tris/HCl pH 7.5, 1 mM

EDTA, 0.5 mM phenylmethanesulfonyl fluoride, 0.5 mM

1,4-dithio-DL-threitol (DTT) and 0.1% (v/v) Nonidet

(named solution A), to obtain complete lysis of intracellular

organelles Cells were then scraped from the plate and the

samples were centrifuged for 30 min at 105 000 g Protein

content measurements [33] and enzymatic assays were

carried out on the clear supernatant fractions

Total GPx activity was measured according to the

coupled enzyme procedure with glutathione reductase, as

described [34], using cumene hydroperoxide as substrate

The enzymatic activity was monitored by following the

disappearance of NADPH at 340 nm for 3 min at 25C

The incubation medium (final volume 1 mL) had the

composition 50 mMKH2PO4pH 7.0, 3 mMEDTA, 1 mM

KCN, 1 mM GSH, 0.1 mM NADPH, 2 U glutathione

reductase and 300 lg protein After a 3 min equilibration

period at 25C, the reaction was started by the addition of

0.1 mM cumene hydroperoxide dissolved in ethanol The

specific activity was calculated by using an extinction molar

coefficient obtained by a standard curve of NADPH

between 0.02 and 0.1 lmolesÆmL)1 and GPx activity

protein)1Æmin)1

GR activity was measured according to the method of Carlberg & Mannervik [35], by following the rate of oxidation of NADPH by GSSG at 340 nm for 3 min at

25C The reaction mixture (final volume 1 mL) contained 0.1M KH2PO4 pH 7.6, 0.5 mM EDTA, 1 mM GSSG, 0.1 mMNADPH, and 300 lg protein The specific activity was calculated by using an extinction molar coefficient obtained by a standard curve of NADPH between 0.02 and 0.1 lmolesÆmL)1and GR activity was expressed in nmoles NADPH consumedÆmg protein)1Æmin)1

Total catalase activity was assayed according to the method of Aebi [36] Activity was measured by monitoring, for 30 s at 25C, the decomposition of 10 mM H2O2 at

240 nm in a medium (final volume 1 mL) consisting of

50 mM phosphate buffer pH 7.0 and  100 lg proteins Catalase activity was expressed as unitsÆmg protein)1, assuming that 1 unit of catalase decomposes 1 lmole of

H2O2Æmin)1 For SOD activity assay a 0.6 mL aliquot of cell lysate was sonicated on ice (2· 30 s) and centrifuged for 30 min

at 105 000 g The supernatant was collected and dialysed overnight in cold double-distilled water

interference substances [37] Enzymatic assays were carried out according to the method of Oberlay & Spitz [38], with minor modifications Briefly, in 1 mL 50 mM KH2PO4

pH 7.8 and 0.1 mM EDTA, a superoxide-generating sys-tem (0.15 mMxanthine plus 0.02 U xanthine oxidase) was used together with 50 lM nitroblue tetrazolium (NBT) to monitor superoxide formation by following the changes in colorimetric absorbance at 560 nm for 5 min at 25C The catalytic activities of the samples were evaluated as their ability to inhibit the rate of NBT reduction; increasing amounts of proteins (5–150 lg) were added to each sample until maximum inhibition was obtained SOD activity was expressed as unitsÆmg protein)1, with 1 unit of SOD activity being defined as the amount of proteins causing half-maximal inhibition of the rate of NBT reduction GST activity was assayed in the supernatant of cell lysates, as described [39] Briefly, 150 lg protein were incubated in 50 mM KH2PO4 pH 6.5, 1 mM GSH and 0.25 mM 1-chloro-2,4-dinitrobenzene The reaction was followed for 2 min at 37C at 340 nm, and GST activity was calculated using an extinction coefficient of 9.6 mM )1Æcm)1[39]

Reverse transcription and quantitative PCR RNA (5 lg) was reverse transcribed to cDNA using random hexamer primers and the Stratascript enzyme Quantitative PCR was performed using an MX3000p thermal cycler system and Brilliant SYBER Green QPCR Master Mix (Stratagene) The conditions for the amplifica-tion of copper zinc superoxide dismutase (CuZnSOD), manganese superoxide dismutase (MnSOD) and the nor-malization gene, ribosomal 36B4, were as follows One denaturation step at 90C for 10 min, 40 cycles consisting

of denaturation at 90C for 30 s, annealing at 56 C for

60 s for CuZnSOD and MnSOD and 60C for 36B4, elongation at 72C for 60 s At the end of the PCR the samples were subjected to melting curve analysis All reactions were performed in triplicate The primer sequences were CuZnSOD [40], sense 5¢-GCGACGAAG

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GCCGTGTGCGTGC-3¢, antisense 5¢-ACTTTCTTCATT

TCCACCTTTGCC-3¢; MnSOD [40], sense 5¢-CTTCA

GCCTGCACTGAAGTTCAAT-3¢, antisense 5¢-CTGAA

GGTAGTAAGCGTGCTCCC-3¢; 36B4, sense 5¢-GTGA

TGTGCAGCTGATCAAGACT-3¢, antisense 5¢-GATGA

CCAGCCCAAAGGAGA-3¢

Western blot analysis

Cells were lysed in the same buffer as used for the enzyme

activity assay An equal amount of protein (40 lgÆlane)1)

for each sample was separated by SDS/PAGE (12%

acrylamide) and transferred to nitrocellulose membrane

The membrane was blocked in 5% (w/v) nonfat dry milk in

60.02M Tris/HCl pH 7.5, 0.137M NaCl, and 0.1% (v/v)

Tween-20 for 3 h at room temperature After overnight

incubation at 4C in 1 : 1000 of primary antibodies

to CuZnSOD (Santa Crutz) or MnSOD (Stressgen

Bio-technology), membranes were probed with horseradish

peroxidase-conjugated secondary antibody (Amersham

Biosciences) Bound antibody was visualized using an

ECL reagent (Amersham Biosciences) Densitometric

ana-lysis of Western blot signal was performed usingIMAGE

-MASTER VDS-CL (Amersham Pharmacia Biotech) and

IMAGE-MASTER TOTALLABv1.11 software

ROS measurement

Aconitase determination Aconitase activity was measured

as described previously [41] on 1· 106 cells or on the

subcellular fractions obtained as reported above The

samples were dissolved in 0.1% (v/v) Triton X-100 and

incubated for 15 min at 30C in 50 mMTris/HCl pH 7.4,

0.6 mMMgCl2, 0.4 mMNADP, 5 mMNa citrate To start

the assay, 2 U isocitrate dehydrogenase were added

and activity was measured by monitoring absorbance at

340 nm for 15 min Reactivation of aconitase was

obtained by adding 50 lMDTT, 20 lMNa2S and 20 lM

Fe(NH4)2(SO4)2 directly into the cuvette, just before

spectrophotometric determination [41]

DCF fluorescence Direct detection of intracellular

steady-state levels of ROS was carried out on living cells using

2¢,7¢-dichlorofluorescin-diacetate (H2-DCF-DA) [42–44] The

probe is de-acetylated inside the cell The subsequent

oxidation by intracellular oxidants yields a fluorescent

product, 2¢,7¢-dichlorofluorescin (DCF) Cells were collected

by trypsinization and centrifuged for 5 min at 800 g The

pellet was incubated in tissue-culture medium with 5 lM

H2-DCF-DA for 30 min at 37C Cells were washed and

then suspended (1· 106 per mL) in medium (standard

growth conditions) or in NaCl/Pi for 90 min (stress

conditions) A FACSCalibur analyser (Becton-Dickinson

Immunocytometry Systems) equipped with a 488 Argon

laser was used for measurements of intracellular

fluores-cence Dead cells were excluded by electronically gating data

on the basis of forward- vs side-scatter profiles; a minimum

of 1· 104cells of interest were analysed further

Logarith-mic detectors were used for the FL-1 fluorescence channel

necessary for DCF detection Mean log fluorescence

intensity (MFI) values were obtained by the CELLQUEST

software program (Becton-Dickinson)

Results The steady-state levels of intracellular ROS depends on the balance between rates of ROS generation and detoxifica-tion A crucial role in determining ROS cellular homeostasis

is played by the antioxidant defence systems Therefore soluble (GSH and GSSG) and enzymatic defences (GPx,

GR, SOD, catalase and GST) were characterized on three human tumour cell lines, with (q+) and without (q0) mtDNA GSH concentration was significantly decreased in all three mtDNA depleted cell lines compared to parental lines with mtDNA; the decrease in GSH content was most pronounced in bone 143B q0cells (Fig 1) GSSG was also lower in q0cells compared with q+, but only statistically significant in bone-derived cells (Fig 1) The percentage of

Fig 1 GSH and GSSG concentrations and ratio of GSH 2 : GSSG in

q+and q0cells from osteosarcoma (bone), rhabdomyosarcoma (muscle) and lung carcinoma (lung) Values are expressed as means ± SD of at least three assays carried out in duplicate Significant differences from respective q+value at: *P < 0.05; **P < 0.01.

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mitochondrial GSH in respect to total GSH was similar in

all tested q+and q0cell lines, ranging from 2.7 to 5% (data

not shown) To assess the cellular redox state we measured

the GSH2: GSSG ratio which is considered a good index of

this parameter [45] MtDNA loss was associated with an

alteration in this ratio with q0cells having a more oxidized

redox state than q+ cells However the change was

statistically significant only in bone-derived q0cells

More-over, the different values found in bone, muscle and lung q0

cells were all significantly different (P < 0.05) from each

other; in fact the GSH2: GSSG ratio of bone 143Bq0cells is

about one-half of that in muscle RDq0cells and even three

to four times lower than that measured in lung A549q0cells

GPx and GR are crucial antioxidant defences as GPx

transforms H2O2to H2O by coupling the oxidation of GSH

to GSSG and GR mediates the reduction of GSSG to GSH

In the three cell lines tested, mtDNA loss was associated

with a four-fold increase in GPx activity and a significant

decrease in GR activity (Fig 2) Moreover Fig 2 shows

that the absolute values of GPx and GR activity were

considerably higher in lung q0 cells than in other q0 cells

(Fig 2) Catalase activity was assessed in q+and q0cells;

our findings show that such activity was not affected by

mtDNA depletion (data not shown)

Activity, gene expression and protein content of SOD

were studied Total SOD activity was decreased in bone and

muscle q0 cells compared with their parental q+ lines

(Fig 3), whereas there were no significant differences in the activity and expression levels in lung q+ and q0 cells (Figs 3–5) Quantitative PCR (Fig 4) and Western blot (Fig 5) analysis were carried out to evaluate the relative contribution of MnSOD and CuZnSOD Both analyses confirmed that bone q0 cells had significantly lower expression of CuZnSOD than the other cells In muscle-derived cell lines mtDNA ablation reduced the expression and protein amount of mitochondrial MnSOD but not of cytosolic CuZnSOD (Figs 4 and 5) Densitometric analysis

of Western blot was in line with the results of quantitative PCR (data not shown)

Glutathione S-transferase (GST) enzymes metabolize xenobiotics as well as aldehydes, endogenously produced during lipid peroxidation, by conjugation with GSH Moreover, some GSTs also show glutathione-peroxidase-like activity [1] GST activity was decreased to a similar extent in bone- and muscle-derived q0cells, compared with the parental q+ cells, but the absolute value was signifi-cantly higher in bone than in muscle q0cells No differences were evident in lung q+and q0cell lines (Fig 6) To check the ability of the antioxidant defences to balance ROS generation, indirect and direct measurements of intracellular steady state levels of ROS were performed Indirect measurements were carried out by assessing the aconitase activity Aconitase is a four iron–sulfur cluster (Fe–S)-containing hydratase, present in various subcellular compartments (i.e mitochondria and cytosol) which is inactivated by OÆ2 [41] In the cytosol, loss of aconitase activity results in the conversion of this enzyme to the iron regulatory protein-1 (IRP-1), that serves to regulate iron homeostasis [46], and mitochondrial aconitase inactivation serves as a protective response to oxidative stress [46] Aconitase activity was measured in q+and q0 cell lines under basal culture conditions and after 18 h of treatment with the ROS spin-trapping N-tert-butyl-a-phenylnitrone (PBN) [47,48] Figure 7 shows a trend of increasing aconitase activity in almost all PBN-treated cell lines The increase was most marked in bone q+and q0cells (more

Fig 2 GPx and GR activities in q + and q 0 cells from osteosarcoma

(bone), rhabdomyosarcoma (muscle) and lung carcinoma (lung) Values

are expressed as means ± SD of at least three assays carried out in

duplicate Significant differences from respective q+ value at:

**P < 0.01; ***P < 0.001.

Fig 3 Total SOD activity in q+andq° cells from osteosarcoma (bone),

rhabdomyosarcoma (muscle) and lung carcinoma (lung) Values are expressed as means ± SD of at least three assays carried out in duplicate Significant differences from respective q + value at:

***P < 0.001.

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than five-fold) and in muscle q0 cells, suggesting that the

OÆ2 level was higher in these cells than in lung q0 cells

Both mitochondrial [28,46] and cytosolic IRP-1/aconitase

activities [46] are reactivated in the presence of reducing

agents and free Fe2+carrier–donor [41] Therefore, in an

attempt to localize OÆ2 production, we assessed aconitase

reactivation in these subcellular fractions Reactivated

aconitase showed a dramatic increase in cytosolic fractions

of bone q0cells (Fig 8), whereas in mitochondria-enriched

fractions there were no significant differences

Lastly, by means of the DCF technique coupled to flow

cytometric analysis, intracellular fluorescence was measured

as an index of steady-state levels of ROS under basal and

stress conditions (Fig 9, Table 1) In the presence of glucose

and 10% serum (standard growth conditions), the

fluores-cence measured in q0 cells was lower than that in the

parental cell lines containing mtDNA The decrease was

substantial in lung (90%) and muscle (40%) cells but was

less evident in bone (less than one-third) (Table 1) When

the cells were incubated in NaCl/Pi for 90 min, the

intracellular fluorescence signal dramatically increased in

all cases (Fig 9, Table 1) The increases, in comparison to

the signals observed in standard growth conditions, were

consistently greater in q0than in q+cells, yet the extent of the increase varied considerably between the three q0lines

In bone and lung q0cells the increases were 17- and 39-fold, respectively However only in bone q0 cells was DCF oxidation significantly higher compared to the value of the respective q+cell line (Table 1)

Discussion Our analysis of three pairs of q+and q0cells, derived from bone, muscle and lung, indicates that these cells differ significantly both in their antioxidant defences and intra-cellular ROS homeostasis The antioxidant system is

Fig 5 Western blotting analysis of CuZnSOD and MnSOD in q + and

q0cells from osteosarcoma (bone), rhabdomyosarcoma (muscle) and lung carcinoma (lung) Total cell extract was resolved by SDS/PAGE and blotted onto nitrocellulose The membrane was cut in strips, corres-ponding to the different molecular masses of MnSOD, CuZnSOD and actin, the last acting as an internal standard, and incubated with the corresponding antibody Forty micrograms of cell protein extract was loaded in each lane The blots depicted are representative of three separate experiments.

Fig 6 GST activity in q +

and q 0

cells from osteosarcoma (bone), rhabdomyosarcoma (muscle) and lung carcinoma (lung) Values are ex-pressed as means ± SD of at least three assays carried out in dupli-cate Significant differences from respective q + value at: **P < 0.01.

Fig 4 Quantitative real-time PCR of CuZnSOD and MnSOD in q +

and q 0 cells from osteosarcoma (bone), rhabdomyosarcoma (muscle) and

lung carcinoma (lung) mRNA values of CuZnSOD and MnSOD are

normalized for ribosomal 36B4 gene and are expressed as

means ± SD of three assays in triplicate in arbitrary units (A.U.).

Significant differences from respective q+value at: *P < 0.05.

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profoundly affected by mtDNA depletion in a tissue

specific-manner, probably as a response to a decreased

need of efficient antioxidant machinery

Antioxidant defences of parental q+ cell lines

The parental (q+) A549 cells, derived from type II human

alveolar epithelial cells [49], are provided with the highest

GSH content and GSH2: GSSG ratio (Fig 1), and the

highest GPx, GR (Fig 2) and SOD (Fig 3) activities in

comparison with bone and muscle derived q+cells This

very efficient ROS defence system may be related to the high

oxygen tension normally present in the lung and explains

the great resistance of these cells to apoptosis, after exposure

to high oxygen concentrations [50] By contrast, bone

(143B)- and muscle derived (RD)- cells are similar in their

low content of GSH (only one-half of that present in A549)

and poor GPx activity (Figs 1 and 2); however, RD cells

differ significantly in GR activity and in particular in

activity, gene expression and protein content of SOD

(Figs 3–5)

Antioxidant defences of q0cell lines

GSH-GSSG and GR We measured GSH and GSSG in

exponentially growing cells, as GSH content changes in the

growth and lag phases [51] In all q0cells studied, GSH was

significantly lower than in the respective parental cells, with

the lowest GSH level in bone-derived q0cells, and significant

differences in the GSH2: GSSG ratios among the different

q0 cells (Fig 1) The intracellular content of GSH is the

result of balance between its synthesis and consumption

GSH synthesis is a two-step ATP-requiring process

cata-lysed by cytosolic c-glutamylcysteine synthetase (c-GCS)

and GSH synthetase and is regulated (feedback-inhibited)

by GSH itself [52] We neither directly measured these

activities in our q0cells nor did we find reports on this topic

in the literature, but we did find a very low amount of ATP (data not shown) in all of the q0cells compared with the respective parental q+cells The smaller GSH pool in q0 cells (reduced GSH and GSSG) suggests that it could be due

to reduced synthesis rather than to enhanced utilization in cells with low amounts of ATP In fact if the lower level of GSH in q0cells was due to its extensive consumption in the GPx pathway or to a direct interaction with ROS, we should find increased GSSG In our experimental condi-tions we found that GSSG levels in all q0cell lines were not increased, but rather decreased, although GR activity was significantly decreased in all q0 cells (Fig 2) However, it cannot be excluded that GSSG is actively secreted from the cells subjected to an oxidative stress [52]

maintain cellular redox environment [45] Therefore our data could indicate that mtDNA-depleted cells need less

Fig 8 Aconitase reactivation Aconitase activity was assayed in mit-ochondrial and cytosolic fractions of q + and q 0 from osteosarcoma (bone), rhabdomyosarcoma (muscle) and lung carcinoma (lung) Reactivation was achieved in presence of reducing agents (DTT) and

Fe 2+ carrier–donor [Fe(NH 4 ) 2 (SO 4 ) 2 ], as described in Experimental procedures, and is expressed as percentage of basal value Basal values (nmolesÆmin)1Æmg protein)1) of mitochondrial aconitase activity were:

in bone q +

¼ 3.26 ± 1.87 (4); bone q 0

¼ 2.36 ± 0.93 (4); muscle

q +

¼ 8.77 ± 0.57 (3); muscle q 0

¼ 2.08 ± 0.19 (3); lung q +

¼ 8.46 ± 4.12 (3); lung q0¼ 4.88 ± 0.59 (3) Basal cytosolic aconitase

in bone q +

¼ 1.64 ± 0.57 (4); bone q 0

¼ 2.81 ± 1.12 (4); muscle

q +

¼ 0.76 ± 0.29 (3); muscle q 0

¼ 1.26 ± 0.53 (3); lung q +

¼ 4.79 ± 0.6 (3); lung q0¼ 4.59 ± 2.27 (3) Significant differences from respective q+value at: *P < 0.05, **P < 0.01.

Fig 7 Aconitase activity in whole cells in absence (–) and presence (+)

of PBN Rho+and q0cells from osteosarcoma (bone),

rhabdomyo-sarcoma (muscle) and lung carcinoma (lung) were cultured in the

ab-sence (–) or the preab-sence (+) of 500 l M PBN for 18 h Aconitase

activity were assayed spectrophotometrically in cell lysate Values are

expressed as means ± SD of at least three assays in duplicate as

nmolesÆmin)1Æmg)1protein –PBN value significantly different from

+PBN value at: *P < 0.05; **P < 0.01; ***P < 0.001.

Trang 8

anti-ROS buffer in the form of GSH for loss of ROS

mitochondrial fluctuation and of ROS spike, occurring

when the respiratory chain is active

8

SOD, GST, GPx and catalase With the exception of catalase and GPx activity, depletion

of mtDNA diminished SOD and GST activities in bone-and muscle-derived q0cells but not in lung-derived q0cells (Figs 3–6), where SOD (Figs 3–5) and GST (Fig 6) were unaffected after ablation of the respiratory chain In bone and muscle q0 cells SOD activity decreased (Fig 3) as compared with the respective parental q+cells Expression level analysis revealed that in bone q0 cells CuZnSOD mRNA (Fig 4) and protein content were decreased (Fig 5), whereas in muscle q0cells MnSOD decreased in mRNA and protein amount compared with parental cells (Figs 4 and 5) The decrease of SOD and GST antioxidant enzymes in bone and muscle but not in lung q0cells might be ascribed to different expression–regulation of nuclear genes

as a response to cell type differential redox-sensitive signalling [53]

Catalase activity is unaffected by mtDNA depletion (data not shown) and, interestingly, the activity of GPx was found to be considerably increased in all q0 cells relative to the parental cells (Fig 2) GPx, together with catalase and thioredoxin peroxidase, restricts H2O2 accu-mulation and the consequent production of highly reactive

Bone

Muscle

Lung

Blank Standard growth condition Stressed condition

100 101 102 103 104

100 101 102 103 104

100 101 102 103 104 10 0 10 1 10 2 10 3 10 4

10 0 10 1 10 2 10 3 10 4

10 0 10 1 10 2 10 3 10 4

FL1-H FL1-H

FL1-H FL1-H

FL1-H

FL1-H

Counts Counts

Fig 9 DCF oxidation in cells with and without glucose Rho+and q 0 cells from osteosarcoma (bone), rhabdomyosarcoma (muscle), and lung carcinoma (lung) were collected and loaded with H 2 -DCF-DA Fluorimetric signals of oxidized DCF (excitation, 488 nm; emission, 530 nm) were recorded by cytofluorimeter from cells in presence of glucose (dotted line): standard growth conditions or in absence of glucose (bold line): stressed conditions Blank signal, obtained from cells without H 2 -DCF-DA, was deducted to the reported MFI values The panels are representative of the separate experiments summarized in Table 1.

Table 1 Levels of DCF oxidation in q+and q0cells from osteosarcoma

(bone), rhabdomyosarcoma (muscle) and lung carcinoma (lung) MFI of

the DCF signal was measured by fluorescence activated cell sorting as

arbitrary units in cells in presence of glucose (standard growth

con-ditions) and in absence of glucose (stress concon-ditions) Values are

ex-pressed as mean ± SD as arbitrary units of fluorescence Numbers in

parentheses are the numbers of experiments Significant differences

from respective q + value: *P < 0.05; ***P < 0.001.

Conditions Standard growth Stressa

q 0 142 ± 75 (6) 2500 ± 217 (3)*

q 0 143 ± 4 (3)*** 996 ± 210 (3)

q0 25 ± 2 (3)*** 976 ± 319 (3)

a P < 0.001 vs respective values in standard growth conditions.

Trang 9

hydroxyl radicals, for which no physiological defence

system exists [1] In the last few years, the view of hydrogen

peroxide as a merely toxic by-product of cellular

metabo-lism has changed, and it is now recognized as playing an

important role in intracellular signalling [3–5] Fine

regu-lation of redox balance may therefore be a critical function

of peroxidases, catalase and of GPx, in particular [54] GPx

regulates the intracellular hydroperoxides and lipid

hydro-peroxides used as signal transducers of many transcription

factors including nuclear factor-jB [55], AP-1 [56] and

MAP kinases [57] Because catalase is unchanged, the

increased GPx activity of q0 cells may be an essential

cellular adaptation that enables gene expression to function

normally in the absence of mtDNA These findings are

in line with results found in hepatoma-derived Hep1q0

cells [16]

ROS

When DCF signal was assessed as a direct index of ROS, all

of the q0 cells had a reduced intracellular fluorescence

compared to q+cells Bone-derived q0cells had the highest

level of intracellular ROS compared to muscle and lung q0

cells both in standard growth conditions and in stressed

conditions (Fig 9, Table 1) If the current idea, that the

DCF technique mainly determines cellular peroxides [42–

44,58], is accepted it can be hypothesized that q0 cells

accumulate a lower DCF fluorescence signal due to their

high GPx activity (Fig 2) in a tissue-specific manner In

fact, lung q0cells have the lowest DCF oxidation (Fig 9,

Table 1) and the highest GPx activity (Fig 2), whereas

bone- and muscle-derived q0cells have rather similar GPx

activities and similar capacities to eliminate intracellular

oxidants under standard growth conditions Yet, in the

absence of glucose (stress conditions), intracellular levels of

ROS in bone-derived q0cells are 2.5 times those of muscle

q0 cells (Fig 9, Table 1) This may be due to the fact

that among q0 cells, bone q0 cells had the less efficient

antioxidant machinery with the lowest GSH level (Fig 1)

Interestingly, bone-derived q0cells also featured the highest

glucose consumption rate and glucose-6-phosphate

dehy-drogenase activity among the six lines analysed (L Vergani,

unpublished data) Glucose-6-phosphate dehydrogenase is

the rate-limiting enzyme in the pentose phosphate pathway

and a major source of cytosolic NADPH and ribose

phosphate [59] When glucose is scarce, NADPH synthesis

decreases This lead to a decrease in GSH levels as NADPH

is required for GSH regeneration via GR Therefore, our

data suggest that increased generation of intracellular ROS

in bone q0 cells, relative to muscle q0, is due to increased

production of oxidants The high production of ROS in

bone-derived q0 cells is further confirmed by indirect

measurement of ROS obtained by comparing aconitase

activity in standard conditions and after 18 h of incubation

with PBN (Fig 7) In biological systems PBN [60,61], or

N-t-butyl hydroxylamine, a breakdown product of PBN

[47,48], efficiently trap free radicals, such as superoxide

anion (OÆ 

2 ) that in turn inactives aconitase [41] The

observed PBN-induced increase in aconitase activity in bone

q+ and q0 cells and in muscle q0 cells (Fig 7) strongly

supports a high presence of OÆ 

2 in these cells also in standard growth conditions These data are well related to

the lowest GSH2: GSSG ratio and the most oxidized redox state (Fig 1) A PBN effect on antioxidant enzyme activities may be excluded on the basis of a recent report showing that PBN protects U937 cells against ionizing radiation-induced oxidative damage by altering cellular redox state but not affecting antioxidant enzymes [61]

New and original evidence emerges from the experiments

of reactivation of aconitase activity by reducing agents and Fe(NH4)2(SO4)2, as a Fe2+ carrier–donor [41] Figure 8 shows a dramatic increase in cytosolic IRP-1/aconitase activity in bone q0cells, but not in mitochondria-enriched fractions This finding suggests that in bone q0 cells intracellular oxidants derive chiefly from nonmitochondrial compartments and are therefore not related to a vestige of the respiratory electron transport chain Possible sources of nonmitochondrial oxidants include NADPH oxidases [12], and lipoxygenases, whose action plays a role in signal pathways of growth factor-stimulated bone cell mitogenesis [62], and microsomal redox systems [63] NADPH oxidases are up-regulated in lymphoblastoid q0cells, as a compen-satory phenomenon in maintaining cell viability [18] Our results confirm PMRS as a possible source of ROS in bone cells, as the NADPH oxidase inhibitor diphenyleniodo-nium chloride reduces fluorescence accumulation into bone q+ and q0 cells to 65–70% (data not shown) Another possible explanation for the increased generation

of intracellular oxidants in bone-derived q0cells is the high

O2tension to which cultured cells are exposed compared to the low O2tension of osteoblasts The bulk of intracellular oxidants in bone-derived q0cells is in extra-mitochondrial compartments, corroborating an earlier report which showed q0cells to be sensitive to the ablation of cytosolic SOD [64] Moreover the presence of extramitochondrial ROS in q0cells could explain the similar levels of oxidative DNA damage observed in Hela q0 and the parental q+ cells [65]

In conclusion, our study demonstrates that loss of functional mitochondria, the major cellular site for ROS formation, reduces enzymatic and soluble intracellular antioxidant defences but not ROS flux in the studied q0 cells, and that there are cell line-to-cell line variations in intracellular antioxidant defences and ROS homeostasis In fact among the studied cells, those originating from bone are particularly vulnerable to free radical-induced stress after mtDNA ablation These differences could reflect tissue-specific aspects of intracellular oxidant metabolism, although it is inevitable that some specific features of ROS homeostasis in terminally differentiated tissues such as bone, lung and muscle will have been lost during the transformation process that led to tumour formation The pronounced difference in intracellular homeostasis between lung A549 and bone 143B q0cells may also be germane to mtDNA segregation bias, as selection of mutant and wild-type mtDNA is different in the 143B and A549 cellular backgrounds [25,26]

Acknowledgements

We thank Dr G Attardi for the gift of osteosarcoma q 0 and q + cells, Dr I.J Holt for the gift of lung carcinoma q 0 and q + cells and we are grateful

to Dr Aubrey de Grey for great help in interpreting and discussing the data This work was supported by Telethon grant no 1252.

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