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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Authors
Type
Published Article
Journal
Science
0036-8075
Publisher
American Association for the Advancement of Science (AAAS)
Publication Date
Volume
323
Issue
5918
Pages
1208–1211
Identifiers
DOI: 10.1126/science.1165942
PMID: 19251628
Source
Medline

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6. In a survey of 197 familial ALS index cases, we identified two further missense mutations in eight families. Postmortem analysis of three cases with FUS mutations showed FUS-immunoreactive cytoplasmic inclusions and predominantly lower motor neuron degeneration. Cellular expression studies revealed aberrant localization of mutant FUS protein. FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration.

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