Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients
Articolo
Data di Pubblicazione:
2014
Citazione:
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients / S. Millecamps, A. De Septenville, E. Teyssou, M. Daniau, A. Camuzat, M. Albert, E. Leguern, D. Galimberti, A. Brice, Y. Marie, I. Le Ber. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 35:12(2014), pp. 2882.e13-2882.e15.
Abstract:
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are adult-onset neurodegenerative diseases with overlapping clinical characteristics. They share common genetic causes and pathologic hallmarks such as TDP-43 neuronal accumulations. Recently, exome analysis identified mutations in matrin 3 (MATR3) gene in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. MATR3 is a nuclear matrix protein with DNA and RNA binding domains that interacts with TDP-43. To confirm the contribution of MATR3 to ALS, we studied a French cohort of 153 familial ALS or ALS/FTLD patients, without finding any variant. We conclude that mutations in MATR3 are rare in French familial ALS and ALS with FTLD patients.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Amyotrophic lateral sclerosis; Familial ALS; Frontotemporal dementia; Frontotemporal lobar degeneration; FTD; FTLD; Genetic analysis; MATR3; Matrin 3; Motor neuron disease; Amyotrophic Lateral Sclerosis; Cohort Studies; Exons; France; Frontotemporal Lobar Degeneration; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Mutation; Nuclear Matrix-Associated Proteins; RNA-Binding Proteins; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and Gerontology
Elenco autori:
S. Millecamps, A. De Septenville, E. Teyssou, M. Daniau, A. Camuzat, M. Albert, E. Leguern, D. Galimberti, A. Brice, Y. Marie, I. Le Ber
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