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SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan.

Authors :
Johnson AE
Orr BO
Fetter RD
Moughamian AJ
Primeaux LA
Geier EG
Yokoyama JS
Miller BL
Davis GW
Source :
Nature communications [Nat Commun] 2021 Jan 21; Vol. 12 (1), pp. 513. Date of Electronic Publication: 2021 Jan 21.
Publication Year :
2021

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.

Details

Language :
English
ISSN :
2041-1723
Volume :
12
Issue :
1
Database :
MEDLINE
Journal :
Nature communications
Publication Type :
Academic Journal
Accession number :
33479240
Full Text :
https://doi.org/10.1038/s41467-020-20796-8