IBMPFD MUTATIONS IMPAIR PROTEIN DEGRADATION

$106,634R01FY2015AGNIH

Washington University, Saint Louis MO

Investigators

Linked publications, trials & patents

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Abstract

DESCRIPTION (provided by applicant): One age associated muscle disorder is due to mutations in valosin containing protein (VCP) which causes IBMPFD/ALS or inclusion body myopathy (IBM) associated with Paget's disease of the bone (PDB), fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Muscle weakness is the most prevalent phenotypic feature. Although IBMPFD itself is rare, the culmination of each component (IBM, PDB, FTD and ALS) makes its incidence more common in the general population. VCP mutations disrupt autophagosome maturation resulting in dysfunctional autophagy and muscle weakness. We propose to develop a methodology to quantitate autophagy in human skeletal muscle.

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