A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro

Mutations in the optineurin gene (OPTN) have been identified in a small proportion ( T, p.Val295Phe) in a single familial ALS case. This mutation induced recognized cellular features of ALS pathogenesis including Golgi fragmentation and ER stress in NSC-34 cells. In conclusion, the identification of...

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Bibliographic Details
Published in:Amyotrophic lateral sclerosis and frontotemporal degeneration 2017-02, Vol.18 (1-2), p.126-133
Main Authors: Fifita, Jennifer A., Williams, Kelly L., Sundaramoorthy, Vinod, Mccann, Emily P., Nicholson, Garth A., Atkin, Julie D., Blair, Ian P.
Format: Article
Language:English
Subjects:
Amyotrophic Lateral Sclerosis - genetics
Animals
Australia
Cell Line, Transformed
Cohort Studies
DNA Mutational Analysis
Endoplasmic Reticulum Stress - genetics
exome sequencing
Family Health
Female
Golgi Apparatus - genetics
Golgi Apparatus - pathology
Golgi fragmentation
Green Fluorescent Proteins - genetics
Green Fluorescent Proteins - metabolism
Humans
Male
mutation
Mutation - genetics
Optineurin
Transcription Factor CHOP - genetics
Transcription Factor TFIIIA - genetics
Transfection
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Summary:Mutations in the optineurin gene (OPTN) have been identified in a small proportion ( T, p.Val295Phe) in a single familial ALS case. This mutation induced recognized cellular features of ALS pathogenesis including Golgi fragmentation and ER stress in NSC-34 cells. In conclusion, the identification of a novel OPTN mutation in an Australian ALS family, and its capacity to induce ALS-like pathological features in vitro, further strengthens evidence for the role of optineurin in the pathogenesis of ALS.
ISSN:2167-8421
2167-9223
DOI:10.1080/21678421.2016.1218517