The function of a gene family associated with Parkinson’s and other inherited diseases has been elucidated by Yale scientists. Mutations in human VPS13 genes were known to cause neurodevelopmental and neurodegenerative diseases, but the mechanisms were unknown.
In a new study, the labs of Pietro De Camilli, MD, chair and John Klingenstein Professor of Neuroscience and professor of cell biology, and Karin Reinisch, PhD, Jean and David W. Wallace Professor of Cell Biology and professor of molecular biophysics and biochemistry, probed the locations and roles of VPS13 proteins.
The proteins, they found, tether different organelles in cells to each other and help move organelle-defining lipids between them. VPS13C—associated with Parkinson’s—works at the junctions between the endoplasmic reticulum (ER) and endosomes and lysosomes, while VPS13A—associated with a Huntington’s-like syndrome—functions at contacts between the ER and mitochondria.
The findings, published Aug. 9 in the Journal of Cell Biology, imply that these diseases arise from defects in lipid dynamics and could suggest new therapeutic strategies to treat them.