Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach

Neurology

Volumn 74, Issue 6, 2010, Pages 502-506

  Kolb, S J ^a,b   Snyder, P J ^b   Poi, E J ^b   Renard, E A ^b   Bartlett, A ^a   Gu, S ^b   Sutton, S ^b   Arnold, W D ^a   Freimer, M L ^a   Lawson, V H ^a   Kissel, J T ^a   Prior, T W ^b  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HEAT SHOCK PROTEIN 27; SMALL HEAT SHOCK PROTEIN; SMALL HEAT SHOCK PROTEIN B3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EXON; FEMALE; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INTRON; MISSENSE MUTATION; MOTOR NEUROPATHY; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; SENSORY NEUROPATHY;

EID: 76649105116     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181cef84a     Document Type: Article

References (35)

1. Martyn CN, Hughes RA. Epidemiology of peripheral neuropathy. J Neurol Neurosurg Psychiatry 1997;62:310-318.
2. England JD, Asbury AK. Peripheral neuropathy. Lancet 2004;363:2151-2161.
3. Dyck PJ, Oviatt KF, Lambert EH. Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 1981;10:222-226.
4. Verghese J, Bieri PL, Gellido C, Schaumburg HH, Hers-kovitz S. Peripheral neuropathy in young-old and old-old patients. Muscle Nerve 2001;24:1476-1481.
5. Hughes RA, Umapathi T, Gray IA, et al. A controlled investigation of the cause of chronic idiopathic axonal polyneuropathy. Brain 2004;127:1723-1730.
6. Rudolph T, Farbu E. Hospital-referred polyneuropathies: causes, prevalences, clinical-and neurophysiological findings. Eur J Neurol 2007;14:603-608.
7. Zhu M, Zhao S. Candidate gene identification approach: progress and challenges. Int J Biol Sci 2007;3:420-427.
8. Tabor HK, Risch NJ, Myers RM. Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 2002;3:391-397.
9. Kappe G, Franck E, Verschuure P, Boelens WC, Leunis-sen JA, de Jong WW. The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10. Cell Stress Chaperones 2003;8:53-61.
10. Kampinga HH, Hageman J, Vos MJ, et al. Guidelines for the nomenclature of the human heat shock proteins. Cell Stress Chaperones 2009;14:105-111.
11. Irobi J, Van Impe K, Seeman P, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004;36:597-601.
12. Evgrafov OV, Mersiyanova I, Irobi J, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602-606.
13. Tang B, Liu X, Zhao G, et al. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. Arch Neurol 2005;62:1201-1207. (Pubitemid 41168344)
14. Kijima K, Numakura C, Goto T, et al. Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet 2005;50:473-476.
15. Dierick I, Baets J, Irobi J, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008;131:1217-1227.
16. Houlden H, Laura M, Wavrant-De Vrieze F, Blake J, Wood N, Reilly MM. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/ CMT type 2. Neurology 2008;71:1660-1668.
17. James PA, Rankin J, Talbot K. Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27). J Neurol Neu-rosurg Psychiatry 2008;79:461-463.
18. Tang BS, Zhao GH, Luo W, et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 2005;116:222-224. (Pubitemid 40174008)
19. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
20. Bukau B, Deuerling E, Pfund C, Craig EA. Getting newly synthesized proteins into shape. Cell 2000;101:119-122.
21. Netzer WJ, Hartl FU. Protein folding in the cytosol: chaperonin-dependent and-independent mechanisms. Trends Biochem Sci 1998;23:68-73.
22. Fontaine JM, Sun X, Hoppe AD, et al. Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants. FASEB J 2006;20:2168-2170.
23. Shemetov AA, Seit-Nebi AS, Gusev NB. Structure, properties, and functions of the human small heat-shock protein HSP22 (HspB8, H11, E2IG1): a critical review. J Neurosci Res 2007;86:264-269.
24. Jakob U, Gaestel M, Engel K, Buchner J. Small heat shock proteins are molecular chaperones. J Biol Chem 1993;268: 1517-1520.
25. Richmond CS, Glasner JD, Mau R, Jin H, Blattner FR. Genome-wide expression profiling in Escherichia coli K-12. Nucleic Acids Res 1999;27:3821-3835.
26. Boelens WC, Van Boekel MA, De Jong WW. HspB3, the most deviating of the six known human small heat shock proteins. Biochim Biophys Acta 1998;1388:513-516.
27. Lein ES, Hawrylycz MJ, Ao N, et al. Genome-wide atlas of gene expression in the adult mouse brain. Nature 2007; 445:168-176.
28. Vos MJ, Kanon B, Kampinga HH. HSPB7 is a SC35 speckle resident small heat shock protein. Biochim Bio-phys Acta 2009;1793:1343-1353.
29. Sugiyama Y, Suzuki A, Kishikawa M, et al. Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myo-genic differentiation. J Biol Chem 2000;275:1095-1104.
30. Fontaine JM, Sun X, Benndorf R, Welsh MJ. Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3. Biochem Biophys Res Commun 2005;337:1006-1011.
31. Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-95.
32. Ackerley S, James PA, Kalli A, French S, Davies KE, Tal-bot K. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet 2006;15:347-354.
33. Zhai J, Lin H, Julien JP, Schlaepfer WW. Disruption of neu-rofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. Hum Mol Genet 2007;16:3103-3116.
34. Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet 2004;13 Spec. No.2:R195-R202.
35. Kim MV, Kasakov AS, Seit-Nebi AS, Marston SB, Gusev NB. Structure and properties of K141E mutant of small heat shock protein HSP22 (HspB8, H11) that is expressed in human neuromuscular disorders. Arch Biochem Bio-phys 2006;454:32-41.