| Literature DB >> 33479240 |
Alyssa E Johnson1,2, Brian O Orr1, Richard D Fetter1, Armen J Moughamian1,3, Logan A Primeaux2, Ethan G Geier2,4, Jennifer S Yokoyama4, Bruce L Miller4, Graeme W Davis5.
Abstract
Missense mutations in Valosin-Containing Protein (VCP) are linked to diverse degenerative diseases including IBMPFD, amyotrophic lateral sclerosis (ALS), muscular dystrophy and Parkinson's disease. Here, we characterize a VCP-binding co-factor (SVIP) that specifically recruits VCP to lysosomes. SVIP is essential for lysosomal dynamic stability and autophagosomal-lysosomal fusion. SVIP mutations cause muscle wasting and neuromuscular degeneration while muscle-specific SVIP over-expression increases lysosomal abundance and is sufficient to extend lifespan in a context, stress-dependent manner. We also establish multiple links between SVIP and VCP-dependent disease in our Drosophila model system. A biochemical screen identifies a disease-causing VCP mutation that prevents SVIP binding. Conversely, over-expression of an SVIP mutation that prevents VCP binding is deleterious. Finally, we identify a human SVIP mutation and confirm the pathogenicity of this mutation in our Drosophila model. We propose a model for VCP disease based on the differential, co-factor-dependent recruitment of VCP to intracellular organelles.Entities:
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Year: 2021 PMID: 33479240 PMCID: PMC7820495 DOI: 10.1038/s41467-020-20796-8
Source DB: PubMed Journal: Nat Commun ISSN: 2041-1723 Impact factor: 14.919