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SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan.
- 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.
- Subjects :
- Amyotrophic Lateral Sclerosis genetics
Amyotrophic Lateral Sclerosis metabolism
Animals
Animals, Genetically Modified
Disease Models, Animal
Drosophila Proteins genetics
Drosophila Proteins metabolism
Drosophila melanogaster genetics
Drosophila melanogaster metabolism
Frontotemporal Dementia genetics
Frontotemporal Dementia metabolism
Humans
Membrane Proteins metabolism
Muscular Dystrophies, Limb-Girdle genetics
Muscular Dystrophies, Limb-Girdle metabolism
Myositis, Inclusion Body genetics
Myositis, Inclusion Body metabolism
Neurodegenerative Diseases metabolism
Osteitis Deformans genetics
Osteitis Deformans metabolism
Phosphate-Binding Proteins metabolism
Protein Binding
Valosin Containing Protein metabolism
Longevity genetics
Lysosomes metabolism
Membrane Proteins genetics
Mutation
Neurodegenerative Diseases genetics
Phosphate-Binding Proteins genetics
Valosin Containing Protein genetics
Subjects
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