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Exome sequencing reveals VCP mutations as a cause of familial ALS.

Abstract：

:Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration.

journal_name

Neuron

journal_title

Neuron

authors

Johnson JO,Mandrioli J,Benatar M,Abramzon Y,Van Deerlin VM,Trojanowski JQ,Gibbs JR,Brunetti M,Gronka S,Wuu J,Ding J,McCluskey L,Martinez-Lage M,Falcone D,Hernandez DG,Arepalli S,Chong S,Schymick JC,Rothstein J,Landi

doi

10.1016/j.neuron.2010.11.036

subject

Has Abstract

pub_date

2010-12-09 00:00:00

pages

857-64

issue

5

eissn

0896-6273

issn

1097-4199

pii

S0896-6273(10)00978-5

journal_volume

68

pub_type

杂志文章,多中心研究

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