Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach
| العنوان: | Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach |
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| المؤلفون: | E. A. Renard, William Arnold, Thomas W. Prior, E. J. Poi, Miriam Freimer, John T. Kissel, Stephen J. Kolb, Victoria H. Lawson, S. Sutton, S. Gu, Amy Bartlett, Pamela J. Snyder |
| المصدر: | Neurology. 74:502-506 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Candidate gene, DNA Mutational Analysis, Mutant, Pilot Projects, medicine.disease_cause, Cohort Studies, Hsp27, Heat shock protein, medicine, Humans, Gene family, Missense mutation, Genetic Predisposition to Disease, Heat-Shock Proteins, Family Health, Genetics, Mutation, biology, Middle Aged, Motor neuron, medicine.anatomical_structure, biology.protein, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy |
| الوصف: | Objective: Idiopathic peripheral neuropathy is common and likely due to genetic factors that are not detectable using standard linkage analysis. We initiated a candidate gene approach to study the genetic influence of the small heat shock protein (sHSP) gene family on an axonal motor and motor/sensory neuropathy patient population. Methods: The promoter region and all exonic and intronic sequences of the 10 sHSP genes ( HSPB1-HSPB10 ) were screened in a cohort of presumed nonacquired, axonal motor and motor/sensory neuropathy patients seen at the Ohio State University Neuromuscular Clinic. Results: A missense mutation in the gene encoding small heat shock protein B3 ( HSPB3 , also called HSP27 , protein 3 ) was discovered in 2 siblings with an asymmetric axonal motor neuropathy. Electrophysiologic studies revealed an axonal, predominantly motor, length-dependent neuropathy. The mutation, HSPB3(R7S), is located in the N-terminal domain and involves the loss of a conserved arginine. Conclusions: The discovery of an HSPB3 mutation associated with an axonal motor neuropathy using a candidate gene approach supports the notion that the small heat shock protein gene family coordinately plays an important role in motor neuron viability. |
| تدمد: | 1526-632X 0028-3878 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae63f8d79a3ef613de5d8ad1f9ef5114 https://doi.org/10.1212/wnl.0b013e3181cef84a |
| رقم الأكسشن: | edsair.doi.dedup.....ae63f8d79a3ef613de5d8ad1f9ef5114 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1526632X 00283878 |
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