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Charcot-Marie-Tooth disease variants of HSPB1 progressively alter neuromuscular signalling.

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Τίτλος: Charcot-Marie-Tooth disease variants of HSPB1 progressively alter neuromuscular signalling.
Συγγραφείς: Aolymat I; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK., Barclay JW; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK.
Πηγή: Disease models & mechanisms [Dis Model Mech] 2026 Aug 01; Vol. 19 (8). Date of Electronic Publication: 2026 Aug 28.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE
Imprint Name(s): Original Publication: Cambridge : Company of Biologists Ltd., c2008-
Ιατρικοί όροι (MeSH): Charcot-Marie-Tooth Disease*/genetics , Charcot-Marie-Tooth Disease*/metabolism , Caenorhabditis elegans*/metabolism , Caenorhabditis elegans*/drug effects , Caenorhabditis elegans*/genetics , Signal Transduction*/drug effects , HSP27 Heat-Shock Proteins*/genetics , HSP27 Heat-Shock Proteins*/metabolism , Caenorhabditis elegans Proteins*/genetics , Caenorhabditis elegans Proteins*/metabolism , Neuromuscular Junction*/metabolism , Neuromuscular Junction*/drug effects , Muscles*/pathology , Muscles*/metabolism , Heat-Shock Proteins*/genetics , Heat-Shock Proteins*/metabolism, Mutation/genetics ; Aging/metabolism ; Aldicarb/pharmacology ; Mutant Proteins/metabolism ; Animals ; Molecular Chaperones ; Animals, Genetically Modified ; Humans
Περίληψη: Autosomal dominant variants in HSPB1 can cause type 2 Charcot-Marie-Tooth disease, a progressive neuromuscular disorder. HSPB1 is a small, ATP-independent chaperone that functions in protein folding, stabilisation and stress protection, as well as regulating intracellular processes such as organization of the cytoskeleton. How diverse variants in HSPB1 exert progressive neuromuscular defects is unclear. Using a transgenic Caenorhabditis elegans model, we examined three distinct HSPB1 variants and determined that mutant HSPB1 caused an early defect in neuromuscular signalling strength as assayed by aldicarb sensitivity. Our data point to the effects being presynaptic in origin and unrelated to differences in expression of mutant HSPB1 compared with that of the wild-type protein. In contrast, the early defect in neuromuscular signalling may be a result of a general loss of small chaperone function. We also identified a progressive effect whereby age-dependent changes to neuromuscular signalling were accelerated in worms expressing mutant HSPB1. These effects were not mirrored by a general loss of small chaperone function; however, wild-type HSPB1 expression strikingly protected against progressive defects seen in controls. These results indicate a possible progressive mechanism for HSPB1-dependent neuromuscular defects.
(© 2026. Published by The Company of Biologists.)
Competing Interests: Competing interests The authors declare no competing or financial interests.
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Biochem Biophys Res Commun. 2020 Jan 1;521(1):220-226. (PMID: 31630804)
Neuron. 2008 May 8;58(3):346-61. (PMID: 18466746)
J Exp Biol. 2013 Feb 1;216(Pt 3):492-501. (PMID: 23038730)
Int J Biochem Cell Biol. 2012 Oct;44(10):1588-92. (PMID: 22449631)
Nat Rev Neurol. 2019 Nov;15(11):644-656. (PMID: 31582811)
Hum Mol Genet. 2007 Dec 15;16(24):3103-16. (PMID: 17881652)
Genes Dev. 2000 Jun 15;14(12):1460-70. (PMID: 10859165)
Curr Opin Neurol. 2019 Oct;32(5):641-650. (PMID: 31343428)
Nature. 2021 Aug;596(7873):583-589. (PMID: 34265844)
Nat Protoc. 2006;1(4):1772-7. (PMID: 17487159)
Nat Cell Biol. 2023 Mar;25(3):467-480. (PMID: 36690850)
J Neurosci. 2012 May 16;32(20):7042-51. (PMID: 22593072)
Nat Genet. 2004 Jun;36(6):602-6. (PMID: 15122254)
Methods Enzymol. 2016;568:661-79. (PMID: 26795488)
Hum Mutat. 2017 May;38(5):556-568. (PMID: 28144995)
Hum Mol Genet. 2014 Nov 15;23(22):5916-27. (PMID: 24947438)
J Orthop Surg Res. 2024 Mar 1;19(1):156. (PMID: 38429742)
WormBook. 2006 Oct 25;:1-29. (PMID: 18050433)
Neurotherapeutics. 2021 Oct;18(4):2269-2285. (PMID: 34606075)
J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):461-3. (PMID: 18344398)
MicroPubl Biol. 2023 Apr 4;2023:. (PMID: 37090152)
Cell Stress Chaperones. 2020 Jul;25(4):679-699. (PMID: 32323160)
J Neurosci. 2011 Oct 26;31(43):15320-8. (PMID: 22031878)
Mol Biol Cell. 2009 Jan;20(1):43-55. (PMID: 18923141)
Neurobiol Dis. 2019 Oct;130:104505. (PMID: 31212070)
Bio Protoc. 2017 Oct 5;7(19):. (PMID: 29071286)
J Biomed Sci. 2015 Jun 19;22:43. (PMID: 26141737)
Genetics. 1974 May;77(1):71-94. (PMID: 4366476)
PLoS One. 2013 Jul 10;8(7):e68978. (PMID: 23874834)
J Mol Biol. 2025 Aug 1;437(15):168967. (PMID: 40133787)
Cell. 1993 Aug 13;74(3):515-27. (PMID: 8348618)
FASEB J. 2018 Mar;32(3):1716-1728. (PMID: 29133339)
Arch Biochem Biophys. 2013 Oct 1;538(1):16-24. (PMID: 23948568)
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:475-498. (PMID: 35395171)
Genetics. 2017 Nov;207(3):1023-1039. (PMID: 28951527)
Hum Mol Genet. 2023 May 18;32(11):1772-1785. (PMID: 36282524)
J Biol Chem. 2010 Apr 23;285(17):12778-86. (PMID: 20178975)
Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. (PMID: 33943041)
Hum Mutat. 2016 Nov;37(11):1202-1208. (PMID: 27492805)
Cell. 2013 Jun 6;153(6):1366-78. (PMID: 23746847)
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Dev Biol. 2009 Oct 1;334(1):152-60. (PMID: 19627982)
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Genetics. 2016 Mar;202(3):1013-27. (PMID: 26773049)
Nat Med. 2011 Jul 24;17(8):968-74. (PMID: 21785432)
Science. 2003 May 16;300(5622):1142-5. (PMID: 12750521)
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Cell Calcium. 2012 Sep-Oct;52(3-4):289-95. (PMID: 22521667)
Grant Information: P40 OD010440 United States OD NIH HHS; University of Liverpool; Hashemite University
Contributed Indexing: Keywords: Aldicarb; Charcot–Marie–Tooth disease type 2; Hsp27; Synaptic transmission
Substance Nomenclature: 0 (HSP27 Heat-Shock Proteins)
0 (Caenorhabditis elegans Proteins)
0 (Molecular Chaperones)
8V071SH05P (Aldicarb)
0 (Heat-Shock Proteins)
0 (Mutant Proteins)
Entry Date(s): Date Created: 20260723 Date Completed: 20260828 Latest Revision: 20260918
Update Code: 20260918
PubMed Central ID: PMC13580553
DOI: 10.1242/dmm.052805
PMID: 42489084
Βάση Δεδομένων: MEDLINE
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  Data: Charcot-Marie-Tooth disease variants of HSPB1 progressively alter neuromuscular signalling.
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  Data: <searchLink fieldCode="AU" term="%22Aolymat+I%22">Aolymat I</searchLink>; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK.<br /><searchLink fieldCode="AU" term="%22Barclay+JW%22">Barclay JW</searchLink>; Department of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool L69 3BX, UK.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Company+of+Biologists+Ltd%22">Company of Biologists Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101483332 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1754-8411 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217548403%22">17548403 </searchLink><i>NLM ISO Abbreviation: </i>Dis Model Mech <i>Subsets: </i>MEDLINE
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  Data: <i>Original Publication</i>: Cambridge : Company of Biologists Ltd., c2008-
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  Data: <searchLink fieldCode="MM" term="%22Charcot-Marie-Tooth+Disease%22">Charcot-Marie-Tooth Disease*</searchLink>/<searchLink fieldCode="MM" term="%22Charcot-Marie-Tooth+Disease+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Charcot-Marie-Tooth+Disease%22">Charcot-Marie-Tooth Disease*</searchLink>/<searchLink fieldCode="MM" term="%22Charcot-Marie-Tooth+Disease+metabolism%22">metabolism</searchLink> <br /><searchLink fieldCode="MM" term="%22Caenorhabditis+elegans%22">Caenorhabditis elegans*</searchLink>/<searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+metabolism%22">metabolism</searchLink> <br /><searchLink fieldCode="MM" term="%22Caenorhabditis+elegans%22">Caenorhabditis elegans*</searchLink>/<searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+drug+effects%22">drug effects</searchLink> <br /><searchLink fieldCode="MM" term="%22Caenorhabditis+elegans%22">Caenorhabditis elegans*</searchLink>/<searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Signal+Transduction%22">Signal Transduction*</searchLink>/<searchLink fieldCode="MM" term="%22Signal+Transduction+drug+effects%22">drug effects</searchLink> <br /><searchLink fieldCode="MM" term="%22HSP27+Heat-Shock+Proteins%22">HSP27 Heat-Shock Proteins*</searchLink>/<searchLink fieldCode="MM" term="%22HSP27+Heat-Shock+Proteins+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22HSP27+Heat-Shock+Proteins%22">HSP27 Heat-Shock Proteins*</searchLink>/<searchLink fieldCode="MM" term="%22HSP27+Heat-Shock+Proteins+metabolism%22">metabolism</searchLink> <br /><searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+Proteins%22">Caenorhabditis elegans Proteins*</searchLink>/<searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+Proteins+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+Proteins%22">Caenorhabditis elegans Proteins*</searchLink>/<searchLink fieldCode="MM" term="%22Caenorhabditis+elegans+Proteins+metabolism%22">metabolism</searchLink> <br /><searchLink fieldCode="MM" term="%22Neuromuscular+Junction%22">Neuromuscular Junction*</searchLink>/<searchLink fieldCode="MM" term="%22Neuromuscular+Junction+metabolism%22">metabolism</searchLink> <br /><searchLink fieldCode="MM" term="%22Neuromuscular+Junction%22">Neuromuscular Junction*</searchLink>/<searchLink fieldCode="MM" term="%22Neuromuscular+Junction+drug+effects%22">drug effects</searchLink> <br /><searchLink fieldCode="MM" term="%22Muscles%22">Muscles*</searchLink>/<searchLink fieldCode="MM" term="%22Muscles+pathology%22">pathology</searchLink> <br /><searchLink fieldCode="MM" term="%22Muscles%22">Muscles*</searchLink>/<searchLink fieldCode="MM" term="%22Muscles+metabolism%22">metabolism</searchLink> <br /><searchLink fieldCode="MM" term="%22Heat-Shock+Proteins%22">Heat-Shock Proteins*</searchLink>/<searchLink fieldCode="MM" term="%22Heat-Shock+Proteins+genetics%22">genetics</searchLink> <br /><searchLink fieldCode="MM" term="%22Heat-Shock+Proteins%22">Heat-Shock Proteins*</searchLink>/<searchLink fieldCode="MM" term="%22Heat-Shock+Proteins+metabolism%22">metabolism</searchLink><br /><searchLink fieldCode="MH" term="%22Mutation%22">Mutation</searchLink>/<searchLink fieldCode="MH" term="%22Mutation+genetics%22">genetics</searchLink> ; <searchLink fieldCode="MH" term="%22Aging%22">Aging</searchLink>/<searchLink fieldCode="MH" term="%22Aging+metabolism%22">metabolism</searchLink> ; <searchLink fieldCode="MH" term="%22Aldicarb%22">Aldicarb</searchLink>/<searchLink fieldCode="MH" term="%22Aldicarb+pharmacology%22">pharmacology</searchLink> ; <searchLink fieldCode="MH" term="%22Mutant+Proteins%22">Mutant Proteins</searchLink>/<searchLink fieldCode="MH" term="%22Mutant+Proteins+metabolism%22">metabolism</searchLink> ; <searchLink fieldCode="MH" term="%22Animals%22">Animals</searchLink> ; <searchLink fieldCode="MH" term="%22Molecular+Chaperones%22">Molecular Chaperones</searchLink> ; <searchLink fieldCode="MH" term="%22Animals%2C+Genetically+Modified%22">Animals, Genetically Modified</searchLink> ; <searchLink fieldCode="MH" term="%22Humans%22">Humans</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Autosomal dominant variants in HSPB1 can cause type 2 Charcot-Marie-Tooth disease, a progressive neuromuscular disorder. HSPB1 is a small, ATP-independent chaperone that functions in protein folding, stabilisation and stress protection, as well as regulating intracellular processes such as organization of the cytoskeleton. How diverse variants in HSPB1 exert progressive neuromuscular defects is unclear. Using a transgenic Caenorhabditis elegans model, we examined three distinct HSPB1 variants and determined that mutant HSPB1 caused an early defect in neuromuscular signalling strength as assayed by aldicarb sensitivity. Our data point to the effects being presynaptic in origin and unrelated to differences in expression of mutant HSPB1 compared with that of the wild-type protein. In contrast, the early defect in neuromuscular signalling may be a result of a general loss of small chaperone function. We also identified a progressive effect whereby age-dependent changes to neuromuscular signalling were accelerated in worms expressing mutant HSPB1. These effects were not mirrored by a general loss of small chaperone function; however, wild-type HSPB1 expression strikingly protected against progressive defects seen in controls. These results indicate a possible progressive mechanism for HSPB1-dependent neuromuscular defects.<br /> (© 2026. Published by The Company of Biologists.)
– Name: Abstract
  Label: Competing Interests
  Group: Ab
  Data: Competing interests The authors declare no competing or financial interests.
– Name: Ref
  Label: References
  Group: RefInfo
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(PMID: <searchLink fieldCode="PM" term="%2210859165%22">10859165)</searchLink><br />Curr Opin Neurol. 2019 Oct;32(5):641-650. (PMID: <searchLink fieldCode="PM" term="%2231343428%22">31343428)</searchLink><br />Nature. 2021 Aug;596(7873):583-589. (PMID: <searchLink fieldCode="PM" term="%2234265844%22">34265844)</searchLink><br />Nat Protoc. 2006;1(4):1772-7. (PMID: <searchLink fieldCode="PM" term="%2217487159%22">17487159)</searchLink><br />Nat Cell Biol. 2023 Mar;25(3):467-480. (PMID: <searchLink fieldCode="PM" term="%2236690850%22">36690850)</searchLink><br />J Neurosci. 2012 May 16;32(20):7042-51. (PMID: <searchLink fieldCode="PM" term="%2222593072%22">22593072)</searchLink><br />Nat Genet. 2004 Jun;36(6):602-6. (PMID: <searchLink fieldCode="PM" term="%2215122254%22">15122254)</searchLink><br />Methods Enzymol. 2016;568:661-79. (PMID: <searchLink fieldCode="PM" term="%2226795488%22">26795488)</searchLink><br />Hum Mutat. 2017 May;38(5):556-568. 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(PMID: <searchLink fieldCode="PM" term="%2240133787%22">40133787)</searchLink><br />Cell. 1993 Aug 13;74(3):515-27. (PMID: <searchLink fieldCode="PM" term="%228348618%22">8348618)</searchLink><br />FASEB J. 2018 Mar;32(3):1716-1728. (PMID: <searchLink fieldCode="PM" term="%2229133339%22">29133339)</searchLink><br />Arch Biochem Biophys. 2013 Oct 1;538(1):16-24. (PMID: <searchLink fieldCode="PM" term="%2223948568%22">23948568)</searchLink><br />Annu Rev Genomics Hum Genet. 2022 Aug 31;23:475-498. (PMID: <searchLink fieldCode="PM" term="%2235395171%22">35395171)</searchLink><br />Genetics. 2017 Nov;207(3):1023-1039. (PMID: <searchLink fieldCode="PM" term="%2228951527%22">28951527)</searchLink><br />Hum Mol Genet. 2023 May 18;32(11):1772-1785. (PMID: <searchLink fieldCode="PM" term="%2236282524%22">36282524)</searchLink><br />J Biol Chem. 2010 Apr 23;285(17):12778-86. (PMID: <searchLink fieldCode="PM" term="%2220178975%22">20178975)</searchLink><br />Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. (PMID: <searchLink fieldCode="PM" term="%2233943041%22">33943041)</searchLink><br />Hum Mutat. 2016 Nov;37(11):1202-1208. (PMID: <searchLink fieldCode="PM" term="%2227492805%22">27492805)</searchLink><br />Cell. 2013 Jun 6;153(6):1366-78. (PMID: <searchLink fieldCode="PM" term="%2223746847%22">23746847)</searchLink><br />Nature. 2012 Oct 11;490(7419):213-8. (PMID: <searchLink fieldCode="PM" term="%2222972192%22">22972192)</searchLink><br />Dev Biol. 2009 Oct 1;334(1):152-60. (PMID: <searchLink fieldCode="PM" term="%2219627982%22">19627982)</searchLink><br />Brain. 2000 Feb;123 ( Pt 2):222-33. (PMID: <searchLink fieldCode="PM" term="%2210648431%22">10648431)</searchLink><br />Genetics. 2016 Mar;202(3):1013-27. (PMID: <searchLink fieldCode="PM" term="%2226773049%22">26773049)</searchLink><br />Nat Med. 2011 Jul 24;17(8):968-74. (PMID: <searchLink fieldCode="PM" term="%2221785432%22">21785432)</searchLink><br />Science. 2003 May 16;300(5622):1142-5. (PMID: <searchLink fieldCode="PM" term="%2212750521%22">12750521)</searchLink><br />MicroPubl Biol. 2025 Jan 14;2025:. (PMID: <searchLink fieldCode="PM" term="%2239882098%22">39882098)</searchLink><br />FEBS Lett. 2017 Sep;591(17):2648-2660. (PMID: <searchLink fieldCode="PM" term="%2228696498%22">28696498)</searchLink><br />Cold Spring Harb Perspect Biol. 2019 Oct 1;11(10):. (PMID: <searchLink fieldCode="PM" term="%2230833458%22">30833458)</searchLink><br />Nat Rev Neurol. 2013 Oct;9(10):562-71. (PMID: <searchLink fieldCode="PM" term="%2224018473%22">24018473)</searchLink><br />Cell Calcium. 2012 Sep-Oct;52(3-4):289-95. (PMID: <searchLink fieldCode="PM" term="%2222521667%22">22521667)</searchLink>
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  Data: P40 OD010440 United States OD NIH HHS; University of Liverpool; Hashemite University
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  Data: <i>Keywords: </i>Aldicarb; Charcot–Marie–Tooth disease type 2; Hsp27; Synaptic transmission
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    Identifiers:
      – Type: doi
        Value: 10.1242/dmm.052805
    Languages:
      – Code: eng
        Text: English
    Subjects:
      – SubjectFull: Mutation genetics
        Type: general
      – SubjectFull: Aging metabolism
        Type: general
      – SubjectFull: Aldicarb pharmacology
        Type: general
      – SubjectFull: Mutant Proteins metabolism
        Type: general
      – SubjectFull: Animals
        Type: general
      – SubjectFull: Molecular Chaperones
        Type: general
      – SubjectFull: Animals, Genetically Modified
        Type: general
      – SubjectFull: Humans
        Type: general
      – SubjectFull: Charcot-Marie-Tooth Disease genetics
        Type: general
      – SubjectFull: Charcot-Marie-Tooth Disease metabolism
        Type: general
      – SubjectFull: Caenorhabditis elegans metabolism
        Type: general
      – SubjectFull: Caenorhabditis elegans drug effects
        Type: general
      – SubjectFull: Caenorhabditis elegans genetics
        Type: general
      – SubjectFull: Signal Transduction drug effects
        Type: general
      – SubjectFull: HSP27 Heat-Shock Proteins genetics
        Type: general
      – SubjectFull: HSP27 Heat-Shock Proteins metabolism
        Type: general
      – SubjectFull: Caenorhabditis elegans Proteins genetics
        Type: general
      – SubjectFull: Caenorhabditis elegans Proteins metabolism
        Type: general
      – SubjectFull: Neuromuscular Junction metabolism
        Type: general
      – SubjectFull: Neuromuscular Junction drug effects
        Type: general
      – SubjectFull: Muscles pathology
        Type: general
      – SubjectFull: Muscles metabolism
        Type: general
      – SubjectFull: Heat-Shock Proteins genetics
        Type: general
      – SubjectFull: Heat-Shock Proteins metabolism
        Type: general
    Titles:
      – TitleFull: Charcot-Marie-Tooth disease variants of HSPB1 progressively alter neuromuscular signalling.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Aolymat I
      – PersonEntity:
          Name:
            NameFull: Barclay JW
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: 2026 Aug 01
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1754-8411
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: Disease models & mechanisms
              Type: main
ResultId 1