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Discovery Medicine: February 2015

Unwinding the Role of Senataxin in Neurodegeneration.

Published: Discovery Medicine; ISSN: 1539-6509; Discov Med 19(103):127-136, February 2015. Copyright © Discovery Medicine. All rights reserved.

Authors: Craig L. Bennett and Albert R. La Spada.

“Interest in senataxin biology began in 2004 when mutations were first identified in what was then a novel protein. Dominantly inherited mutations were documented in rare juvenile-onset, motor neuron disease pedigrees in a familial form of amyotrophic lateral sclerosis (ALS4), while recessive mutations were found to cause a severe early-onset ataxia with oculomotor apraxia (AOA2).” According to the authors, a range of important RNA processing functions have been attributed to senataxin, including critical protein interactions, responsibility for maintaining RNA transcriptome homeostasis, and SETX’s role in maintaining genomic stability. They conclude, “In motor neuron disease, exciting studies of senataxin are underway and could shed light on how the cumulative burden of GC-rich copy number variants and other repeat expansions within the genome lead to degeneration when senataxin function is not optimal or aberrant, as in the case of dominantly inherited ALS4. Thus, while many questions surrounding senataxin normal function and senataxin dysfunction in neurodegenerative disease remain, we predict that the answers to these questions will reveal a rich molecular tapestry with senataxin at its center.”

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