Scientists from Yale found more information about the genetic cause of Parkinson’s disease.
They provided insight into the function of a protein called VPS13C, one of the molecular suspects underlying Parkinson’s, a disease marked by uncontrollable movements including tremors, stiffness, and loss of balance.
The research is published in Proceedings of the National Academy of Science and the Journal of Cell Biology and was conducted by Pietro De Camilli et al.
Variants of at least 20 different genes have been closely linked to the development of Parkinson’s disease.
But scientists are still testing how exactly they cause the severe and incurable motor disorder that afflicts about 1 million people in the U.S. alone.
Previous studies have shown that mutations of the gene VPS13C cause rare cases of inherited Parkinson’s or an increased risk of the disease.
The team tested the mechanisms by which these mutations lead to dysfunction on a cellular level.
In 2018 they reported that VPS13C forms a bridge between two subcellular organelles—the endoplasmic reticulum and the lysosome.
The endoplasmic reticulum is the organelle that regulates the synthesis of most phospholipids, fatty molecules that are essential for building cell membranes. The lysosome acts as a cell’s digestive system.
They also showed that VPS13C can transport lipids, suggesting that it may form a conduit for the traffic of lipids between these two organelles.
One new study found that the lack of VPS13C affects the lipid composition and properties of lysosomes. Moreover, they found that in a human cell line these perturbations activate innate immunity.
Such activation, if occurring in brain tissue, would trigger neuroinflammation, a process implicated in Parkinson’s by several recent studies.
The second study used state-of-the-art cryo-electron tomography techniques to reveal the architecture of this protein in its native environment supporting a bridge model of lipid transport.
Understanding these fine-grained molecular details will be crucial in understanding at least one of the roads that lead to Parkinson’s disease and may help identify therapeutic targets to prevent, or slow, the disease.
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