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