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

Authors :
Johnson, Alyssa E
Johnson, Alyssa E
Orr, Brian O
Fetter, Richard D
Moughamian, Armen J
Primeaux, Logan A
Geier, Ethan G
Yokoyama, Jennifer S
Miller, Bruce L
Davis, Graeme W
Johnson, Alyssa E
Johnson, Alyssa E
Orr, Brian O
Fetter, Richard D
Moughamian, Armen J
Primeaux, Logan A
Geier, Ethan G
Yokoyama, Jennifer S
Miller, Bruce L
Davis, Graeme W
Source :
Nature communications; vol 12, iss 1, 513; 2041-1723
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

Database :
OAIster
Journal :
Nature communications; vol 12, iss 1, 513; 2041-1723
Notes :
application/pdf, Nature communications vol 12, iss 1, 513 2041-1723
Publication Type :
Electronic Resource
Accession number :
edsoai.on1287344315
Document Type :
Electronic Resource