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Tiêu đề Branched chain mechanism of polymerization and ultrastructure of prion protein amyloid fibrils
Tác giả Ilia V. Baskakov
Trường học University of Maryland
Chuyên ngành Medical Biotechnology
Thể loại Minireview
Năm xuất bản 2007
Thành phố Baltimore
Định dạng
Số trang 10
Dung lượng 666,41 KB

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Branched chain mechanism of polymerization andultrastructure of prion protein amyloid fibrils Ilia V.. Although these two models have played an important role in the evolution of our ide

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Branched chain mechanism of polymerization and

ultrastructure of prion protein amyloid fibrils

Ilia V Baskakov1,2

1 Medical Biotechnology Center, University of Maryland Biotechnology Institute, Baltimore, MD, USA

2 Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, MD, USA

Prion diseases are a group of fatal neurodegenerative

maladies that can arise spontaneously or be inherited,

and that can also be infectious [1] Despite enormous

investments over the last 30 years in searching for a

prion virus or virion [2–5], no prion-specific nucleic

acids associated with infectious prion particles have

ever been identified [6] A notable shift has occurred in

the last few years from debating the question of

whe-ther a protein can be infectious to what makes a

pro-tein infectious and how many propro-teins are infectious

[7–9] Elucidating the polymerization mechanisms and

structure of misfolded and aggregated isoforms of the

prion protein (PrP) will help solving these

long-stand-ing research problems

Prion polymerization is a

branched-chain reaction

To model prion conversion, two kinetic models has

been exploited: the nucleation-polymerization [10] and

the template assisted [11] These models have been previously discussed in numerous review articles [12–14] and therefore will not be presented here Although these two models have played an important role in the evolution of our ideas regarding the mechanism of prion conversion, neither of them emphasize the importance of multiplication of the active centers of prion conversion, a key step in prion replication When studying the kinetics of the

in vitro fibril formation, we were surprised to discover that fibrillization of recombinant PrP (rPrP) displays several kinetic features that can not be explained by the nucleation-polymerization or the template assisted models [15,16] These ‘atypical’ features include: (a) the dramatic effect of reaction volume on the length

of the lag-phase; (b) a volume-dependent threshold effect; and (c) the highly cooperative sigmoidal kine-tics of polymerization [15,16] Although these features could not be rationalized within nucleation-polymer-ization or the template assisted models, they are

Keywords

amyloid fibrils; branched-chain mechanism;

in vitro conversion; polymerization kinetics;

prion diseases; prion protein

Correspondence

I V Baskakov, 725 West Lombard Street,

Baltimore, MD 21201, USA

Fax: +1 410 706 8184

Tel: +1 410 706 4562

E-mail: baskakov@umbi.umd.edu

(Received 9 March 2007, accepted 31 May

2007)

doi:10.1111/j.1742-4658.2007.05916.x

The discovery of prion disease and the establishment of the protein only hypothesis of prion propagation raised substantial interest in the class of maladies referred to as conformational diseases Although significant pro-gress has been made in elucidating the mechanisms of polymerization for several amyloidogenic proteins and peptides linked to conformational dis-orders and solving their fibrillar 3D structures, studies of prion protein amyloid fibrils and their polymerization mechanism have proven to be very difficult The present minireview introduces the mechanism of branched-chain reaction for describing the peculiar kinetics of prion polymerization and summarizes our current knowledge about the substructure of prion protein amyloid fibrils

Abbreviations

AFM, atomic force microscopy; GdnHCl, guanidine hydrochloride; PK, proteinase K; PrP, prion protein; rPrP, recombinant prion protein.

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consistent with the mechanism of branched-chain

reactions

Employing the theory of branched-chain reactions

will greatly benefit our understanding of the prion

rep-lication mechanism The first branched-chain processes

were described at the beginning of twentieth century

and the branched-chain theory was developed shortly

afterward in the 1920s by Nikolay Semenov [17]

Although this theory had enormous impact on the

developing chemical industry and nuclear sources of

energy, the Nobel Prize for this amazing discovery was

not awarded until 1956, almost half a century later

[18] A number of odd features including a strong

dependence of the reaction rate on the volume or the

shape of reaction vessel, the presence of a lag-phase,

threshold effects and a strong dependence of the

reac-tion rate on microimpurities observed for this type of

reactions raised serious cautions and even jokes among

conventional chemists It took more than 30 years for

the chemical community to be convinced that this

theory was not heretical Certainly, the history of

developing the branched-chain mechanism and the

‘protein-only’ hypothesis of prion replication share

many things in common

What is more surprising, the theory of

branched-chain reactions explains equally well such diverse

pro-cesses as an atomic explosion or prion replication

Among key characteristics of the branched-chain

mechanism is the multiplication of active or catalytic

centers in the time course of the reactions, a feature

that makes these processes similar to the autocatalytic

reactions (Fig 1) In a simplified expression, the

reac-tion rate is determined by the multiplicareac-tion coefficient

(r), which is proportional to the probability of

gener-ating new active⁄ catalytic centers divided by the

prob-ability of their loss or quenching Depending upon the

rate of multiplication versus quenching, the reactions may switch between auto-acceleration and decay modes When multiplication exceeds quenching (r > 1), the reaction proceeds with self-acceleration If the rate of quenching is higher than the rate of multiplication (r < 1), the reaction decays When r is equal to 1.00, the number of active centers remains constant during the reaction time; therefore, the kinetics of such reac-tions follow the formal mechanism of enzyme catalysis (Fig 1) However, apparently negligible changes in experimental parameters, such as the presence of microimpurities or a change in the shape of the tion vessel, may alter the r-value and switch the reac-tion to decay mode or to auto-accelerareac-tion mode The branched-chain reactions have been known to be unusually ‘sensitive’ to slight changes in experimental parameters that might be seen as stochastic behavior,

in which the reaction follows the ‘all or nothing’ rule

It is important to indicate that the branched-chain mechanism is consistent with the sigmoidal kinetics of fibrillation, which has been previously referred to as

‘nucleation-elongation’ kinetics (Fig 2) According to the nucleation-polymerization model, the lag-phase in the fibrillation process corresponds to the nucleation step, a stage when mature fibrils are not yet formed (Fig 2A) By contrast to this prediction, we found that mature fibril were present at the lag-phase of rPrP fibrillation [16,19] This observation is consistent with the branched-chain mechanism that attributes the lack

of an observable signal during the second part of the lag-phase to the limitations in detecting small amounts

of the final reaction products (i.e in this case, fibrils) (Fig 2B) As soon as the final reaction products are formed even in miniscule amounts, the reaction rate

is accelerated due to the branched-chain mechanism

of multiplication of active centers Therefore, in a

Branched chain reactions are similar to autocatalytic processes

(multiplication coefficient)

probability of formation of new active centers probability of loss of active centers

reaction time

fibril elongation

The kinetics is similar to catalytic processes

Fig 1 Schematic representation of the

branched-chain mechanism If no fibril

frag-mentation occurs, the fibril elongation

reac-tion follows the formal kinetics of enzyme

catalysis Branched chain reactions are

accompanied by multiplication of active

centers (r >> 1) In prion polymerization,

multiplication of active centers occurs,

pre-sumably, as a result of fibril fragmentation.

Quenching or clearance of active centers

could partially counteract the process of

their multiplication (r > 1).

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branched-chain mechanism, the length of the lag-phase

is regulated by the rate of multiplication of active

cen-ters The higher the rate of multiplication, the shorter

is the lag-phase (Fig 2C) The branched-chain mech-anism predicts that the rate of fibril fragmentation controls the length of lag-phase and the cooperativity

of sigmoidal kinetics (Fig 2C) In our yet unpublished studies, we, indeed, observed substantial differences in the length of the lag-phase and polymerization rate of PrP fibrillation reactions that were carried out under identical solvent conditions, but subjected to different fragmentation intensities (O V Bocharova & I V Baskakov, unpublished results)

The mechanism of the branched-chain reaction pre-dicts three potential outcomes for prion disease Depending on the dynamic balance between the rate of multiplication versus clearance, prion disease could: (a) progress very quickly to the clinical form (if >> 1, the kinetics of PrPSc (Sc-scrapie) accumulation follow the formal mechanism of branched-chain reactions); (b) develop very slowly and exist at subclinical level for a long period of time (r ¼ 1, the kinetics of PrPSc

formation follow the formal mechanism of enzyme cata-lysis), or (c) never progress (r < 1, PrPScis cleared, the rate of clearance follow apparent first order kinetics) It has been shown that the concentration of PrPScin the brain of experimental animals drops substantially in the first week after intracerebral inoculation [20,21], indica-ting that the rate of clearance may exceed the rate of multiplication during the initial stage of prion transmis-sion Despite substantial resistance to proteolytic diges-tion, the life-time of PrPSc was found to be relatively short (only 28 h) [22,23] Therefore, for the disease to progress to the clinical stage, the rate of PrPSc multipli-cation should eventually exceed the rate of clearance If the process of multiplication of the active PrPScform is slower than the degradation, PrPSc will be cleared throughout an animal’s lifetime

The critical role of the multiplication of active cen-ters is reflected by the history of the development of

an experimental procedure for cell-free prion repli-cation Successful amplification of prion infectivity

in vitro was not achieved until the repetitive steps of fibril fragmentation were introduced as a part of the experimental protocol In 1995, Caughey and coworkers demonstrated that PrPC (C-cellular) can be converted into the proteinase K (PK)-resistant form, referred to

as PrP-res, in the presence of PrPSc in a cell-free sys-tem [24,25] In these studies, however, only small amounts (approximately 20%) of PrPCsupplied to the reaction mixtures were converted into the PrP-res form despite a 50-fold molar excess of PrPScused as a seed

In subsequent studies, unlimited amplification of PrPSc was achieved in the conversion reactions referred

to as misfolding cyclic amplification by introducing repetitive cycles of elongation and fragmentation,

The branched chain mechanism

nucle

-ation

elongation and fragmentation

Time

Time

A

B

C

nucleation

elongation The nucleation-polymerization model

Time

r >>>1 r >>1

r >1

r = 1

Fig 2 Sigmoidal kinetics of rPrP polymerization (A) The

nuclea-tion-polymerization model postulates that fibrillation consists of two

consecutive stages: nucleation that accounts for a lag-phase and

elongation (B) The branched-chain mechanism predicts that the

for-mation of mature fibrils has already taken place during so-called

‘lag-phase’ However, only a small fraction of the rPrP monomer

converts into fibrils Two parallel processes of fibril elongation and

fragmentation occur during the second part of a lag-phase and a

subsequent stage that has been referred to as ‘elongation’ Arrows

indicate the time point where the mature fibrils could be detected

according to the chain mechanisms (C) The

branched-chain mechanism predicts that the length of the lag-phase and the

polymerization rate are controlled by the r-value Schematic

repre-sentation of four polymerization reactions that are carried out under

identical solvent conditions, but showed different lag-phase and

polymerization rates as a result of differences in fragmentation

con-ditions (I V Baskakov, unpublished data).

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where fragmentation was induced by short pulses of

sonication [26–28] Without sonication, substantially

lower levels of PrPScamplification were reported,

illus-trating that sonication is critical for multiplication of

active replication centers [29,30]

What factors regulate the clearance and

multiplica-tion of active PrPSc centers? Multiple effects may

contribute to the clearance of PrPSc: strain-specific

intrinsic stability of PrPSc [31,32]; species and

tissue-specific variations in proteolytic activity [33,34];

interactions of PrPSc with cellular cofactors such as

glycosaminoglycans [35–37] or polysaccharides [38]

that stabilize PrPSc Removal of active PrPSc centers

could also occur due to aggregation of PrPScinto large

plaques or oxidative modification of amino acid

resi-dues on the PrPSc surface that are involved in prion

replication Our previous studies revealed that sorption

of self-propagating amyloid fibrils to walls of reaction

vessels may account for deactivation of active seeds

in vitro, resulting in dramatic volume-dependent

threshold effects [15,16] For the majority of

branched-chain reactions, the multiplication coefficient r depends

on the ratio of surface to volume of the reaction vessel

[18] Vessel surfaces may either catalyze or deactivate

active centers, thus having a significant impact on the

lag-phase and final yield of the reactions The

volume-dependent threshold is consistent with the scenario

that self-propagating forms of rPrP are adsorbed and

deactivated by the vessel surface As the reaction

volume decreases, the surface-to-volume ratio grows

Therefore, the threshold may be reached when the rate

of surface-dependent deactivation exceeds the rate of

multiplication of self-propagating forms Indeed, we

found that amyloid fibrils have high propensity to

adsorb to walls of the reaction tubes made from

differ-ent materials [16] Binding of fibrillar rPrP to surfaces

is reminiscent of that of PrPSc It is known that prion

diseases can be efficiently transmitted through wires

and surgical instruments contaminated with PrPSc

[39–42] Although sorption of the active amyloid seeds

seems to be a peculiar property of in vitro fibrillization,

it may, in fact, mimic the clearance of the PrPSc

in vivo, and therefore provide mechanistic insight into

prion replication mechanisms

With regards to the multiplication of active centers,

both external cofactors and the intrinsic fragility of

PrPSc fibrils should control the rate of multiplication

It is important to note that the fibril elongation does

not result in multiplication of the active or catalytic

centers, unless fibril fragmentation occurs (Fig 1)

Cel-lular chaperones were found to be involved in

frag-mentation of yeast prion fibrils [43] Cellular cofactors

participating in fragmentation of mammalian prion

fibrils have yet to be identified The intrinsic fragility (i.e the ability of fibrils to fragment into shorter pieces) seems to be controlled by the conformational stability of amyloid fibrils and, specifically, by the stability of the cross-b-fibrillar structure [8] (Y Sun &

I V Baskakov, unpublished data) Recent studies have revealed a strong link between conformational stability and the intrinsic infectivity of fibrils formed by the yeast prion protein Sup35 [44] The amyloid fibrils that displayed low conformational stability exhibited a high efficiency of infection with the large majority of colon-ies showing a strong phenotype Vice versa, fibrils that had high conformational stability displayed low infec-tivity and produced ‘weak’ strains that disappeared fast or that could be easily cured A similar correlation between conformational stability and infectivity was observed for synthetic mammalian prions [45,46] Both yeast and mammalian prion studies indicated that the intrinsic infectivity of fibrils might be controlled, at least in part, by the conformational stability of the cross-b-sheet core, an unexpected lesson that we have learned [8] If the intrinsic fragility of PrPScaggregates does dictate the rate of prion propagation, this prop-erty could account for substantial differences in the incubation times produces by different strains of PrPSc Future studies will determine whether conformational stability proves to be the missing link in our search for the physical determinants of prion fibril infectivity Elucidating the relationship between conformational stability and infectivity may help us to answer the intriguing questions as to why are some but not all amyloidogenic proteins capable of forming infectious fibrils, and why are some but not all types of amyloid fibrils made of the same protein infectious

Ulstrastructure of PrP amyloid fibrils

In recent years, there has been considerable debate as

to whether small nonfibrilar oligomeric particles are more pathogenic or infectious than amyloid fibrils [47,48] A discussion regarding a plausible role for fibrillar or nonfibrillar PrP aggregates in the pathologi-cal process is meaningless unless the physipathologi-cal proper-ties of b-structures and their origin are specified The key criterion in our classification of variable b-sheet rich forms should be their substructure, and not size Our judgment as to whether PrP aggregates are fibril-lar or nonfibrilfibril-lar is often made solely base on tech-niques with poor spatial resolution such as light microscopy Light microscopy has been utilized histor-ically for neuropathological studies and used often for classification of prion aggregates Using light micro-scopy only, it is easy to confuse nonfibrillar oligomers

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with small fibrillar fragments (Fig 3) In fact, the size

distribution of fibrils is very broad and, at any given

time, includes very small or short fibrillar fragments

Short fibrils or their fragments can be generated at the initial stages of fibril elongation, but also produced as

a result of fibril fragmentation In addition to small

C

A

B

Fig 3 Fluorescence and electron microscopy of rPrP amyloid fibrils Amyloid fibrils were produced as described by Bocharova et al [55] and (A) stored in Na-acetate buffer, pH 5.5; (B) stored in Na-acetate buffer, pH 5.5, and sonicated for 1 min prior to imaging; and (C) stored in Tris ⁄ HCl buffer, pH 7.4 All three samples were analyzed in parallel by thioflavine T-fluorescence microscopy (left panels) and by electron microscopy (right panels) When observed by fluorescence microscopy, the fibrils subjected to 1 min of sonication (B) appeared as small nonfibrillar oligomers (A,B) Scale bars ¼ 1 lm; (C) scale bar ¼ 10 lm.

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fragments, fibrils might form aggregates of various

shapes and densities (Fig 3) Although fibrillar

aggre-gates or plaques are believed to be less pathogenic,

they might serve as repositories of more pathogenic

small fibrillar fragments and therefore are equally

important Regardless of the fibril size and shape, the

key feature of fibrils is cross-b-sheet structure, which is

essential for the prion self-propagating activity

More-over, the cross-b-sheet structure of amyloid fibrils is

substantially more stable kinetically and

thermody-namically than the structure of nonfibrillar oligomeric

species, ensuring that fibrils remain assembled and

pre-serving their physical properties even at low

biologi-cally relevant concentrations of PrP

Because the infectious form of PrP has been often

referred to as nonfibrillar in nature, it is important to

evaluate the validity of such claims First, if infectious

prions are indeed nonfibrillar, the question of how

could oligomeric nonfibrillar species be infectious in

the absence of the self-propagating cross-b structure

needs to be answered Second, the vast majority of

experimental procedures used for extraction and

purifi-cation of PrPSc involved sonication, treatment with

detergents and, sometimes, freezing and thawing

[49–51] All of these steps cause severe fragmentation

of fibrils In our experience, sonication for only 1 min

is sufficient to fragment fibrils into small fibrillar

frag-ments that could easily be confused with nonfibrillar

particles (Fig 3B)

In our search for physical properties that are

essen-tial for prion infectivity it is important to gain

infor-mation about the substructure of PrP fibrils What regions of PrP molecule adopt cross-b-sheet conforma-tion within amyloid fibrils? Can we control the con-formational stability of cross-b-sheet core?

The large size of PrP molecules in combination with the highly aggregated, heterogeneous and insoluble nature of PrP fibrils precluded application of NMR and other high-resolution techniques In the absence of methods to solve structure of PrP fibrils in the near future, we employed several alternative approaches for elucidating ultrastructure of fibrils High resolution atomic force microscopy revealed that fibrils produced

in vitro from the full-length rPrP consisted of several laterally assembled filaments [52] In our recent studies,

we found that the fibrils produced under single growth conditions varied with respect to the number of consti-tutive filaments and the manner in which the filaments were assembled The high-order fibrils formed through

a highly hierarchical mechanism of lateral assembly

At each step, filaments were found to associate in pairs

in a pattern resembling dichotomous coalescence (Fig 4) [19,52] Because of alternative modes of lateral assembly, fibrils produced under a single growth condi-tion were heterogeneous with respect to the width, height and twisting morphology

How many PrP molecules are packed per 1 nm within an amyloid fibril? As judged from atomic force microscopy (AFM) measurements and atomic volume calculations, a single full-length rPrP polypeptide occu-pied a distance of approximately 1.2 nm within a single filament (Fig 5A) [52] The amyloid fibrils are

Dichotomous mechanism

of lateral assembly

Width (nm)

20 40 60 80

0 5 10 15

Fig 4 Hierarchical mechanism of lateral

assembly (A) Electron microscopy image of

an amyloid fibril taken at the intermediate

stage of lateral assembly Several

‘coales-cent forks’ (marked by arrows) could be

observed within an individual fibril

Sche-matic representation of the mechanism of

dichotomous assembly is shown in inset.

Based on data from [19] (B) Height–width

profiles of fibrils grown under single growth

conditions illustrate polymorphism in fibril

dimension that occurred as a result of the

hierarchical mechanism of lateral assembly.

Based on data from [52].

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known to be build of b-strands oriented perpendicular

to the fibrillar axis with the distance between two

neighboring b-strands of approximately 4.8 A˚

There-fore, the axial distance occupied by one rPrP molecule

should be equivalent to approximately 2.5 layers of

b-strands Our studies using PK digestion assay

revealed that the PK resistant core of the amyloid

fibrils consisted of residues 138⁄ 141–230, 152 ⁄ 153–230

and 162–230, where the fragment 162–230 was the

most resistant to PK digestion (Fig 5) [53,54] Upon

treatment with PK, the 152⁄ 153–230 and 162–230

PK-resistant fragments maintained fibrillar structure and preserved a high b-sheet context with strong inter-molecular hydrogen bonds Remarkably, the b-sheet rich fibrillar cores encompassed by residues 152⁄ 153–

230 and 162–230 were found to maintain high seeding activity in vitro despite cleavage of the N-terminal and central regions [53,55] Consistent with these studies, the rPrP regions 159–174 and 224–230 were observed

to be buried in the fibril interior and were the most resistant to GdnHCl-induced denaturation as judged from the newly developed dual color

immunofluores-Fig 5 (A) Three-dimensional AFM image of amyloid fibril The fibril consists of several filaments assembled laterally in horizontal and vertical dimensions as seen by a stepwise increase in fibrillar height Although atomic volume calculations predicted that single PrP molecule occu-pies the distance of approximately 1.2 nm (52), the precise 3D structure of PrP within amyloid fibrils has yet to be determined Despite changes in the shape of the PrP molecule upon conversion from the native a-helical form (inset) into the fibrillar form, the atomic volume occupied by a single PrP polypeptide chain does not change substantially (B) Schematic diagram illustrating mapping of PrP regions within amyloid fibrils The PK-resistant b-sheet rich core of amyloid fibrils composed of residues 152–230 and 162–230; PK-cleavage sites are indicated by red arrows Based on data from [55] The epitopes to antibodies AH6 and R1 were solvent unaccessible and were the most resistant to GdnHCl-induced denaturation (highlighted in red); the epitope to antibody D18 was found to be cryptic under native conditions and solvent exposed under partially denaturing conditions (highlighted in orange), whereas the epitopes to antibodies D13 and AG4 were solvent-accessible regardless of the solvent conditions (highlighted in green); based on data from [56] Residues 98, 127, 144, 196 and 230 (blue) showed cooperative unfolding, whereas unfolding at residue 88 (green) was noncooperative; based on data from [58].

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cence microscopy assay (Fig 5) [56] The 132–156

segment was cryptic under native conditions and

solvent-exposed under partially denaturing conditions,

whereas region 95–105 was solvent-accessible

regard-less of the solvent conditions [56] In fibrils formed

from truncated rPrP 90–230, the residues 169–230

showed the slowest hydrogen exchange rate confirming

that the C-terminal part is involved in the b-sheet

structure [57] Site-specific conformational studies

revealed that the C-terminal region accounts for the

high conformational stability of amyloid fibrils [58] As

judged from the C1⁄ 2values, the conformational

stabil-ity of the residues within the region 127–230 were

found to be similar to the global stability of the

amy-loid structure, whereas the stability of residue 98 was

substantially lower than the global stability, but

approached that of natively folded proteins [58]

Taken together, the data accumulated to date have

indicated that the C-terminal part of the rPrP molecule

encompassing residues 152–230 and 162–230, and

poss-ibly 169–230, acquires cross-b-sheet self-propagating

core in amyloid fibrils [53,54,56–58] These regions

account for the high conformational stability and

structural integrity of fibrils The central regions

encompassing residues 90–150 are likely to be involved

in forming the fibrillar interface that participates in

lateral interactions between filaments within mature

fibrils Whether the PrPSc infectious particle has a

substructure similar to that of rPrP fibrils generated

in vitroremains to be determined in future studies

Acknowledgements

I.V.B is supported by a National Institute of Health

grant, NS045585

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