Researchers Seek Genetic Causes of Parkinson's

New research by Yale researchers offers important clues about the genetic causes of Parkinson’s disease. In two new papers, scientists provide 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.

Pietro De Camilli is the senior author of the two new papers, which are published in the Journal of Cell Biology and Proceedings of the National Academy of Science (PNAS). 

Previous studies have shown that the gene VPS13C cause rare cases of inherited Parkinson’s or an increased risk of the disease. To better understand why, Pietro De Camilli and Karin Reinsch have investigated the mechanisms by which these mutations lead to dysfunction on a cellular level. 

The study in the Journal of Cell Biology is titled “ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA- dependent STING signaling”. According to Yale News, this paper demonstrates the lack of VPS13C affects the lipid composition and properties of lysosomes. Moreover, they found that in a human cell line these perturbations activate an innate immunity. Such activation, if occurring in brain tissue, would trigger neuroinflammation, a process implicated in Parkinson’s by several recent studies.

The study in PNAS is titled: “In situ architecture of the lipid transport protein VPS13C at ER-lysosome membrane contacts”. In this second paper from De Camilli’s lab uses state-of-the-art cry-electron tomography techniques to reveal the architecture of this protein in its native environment supporting a bridge model of lipid transport.

Yale News says that 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, according to researchers.

Mayo Clinic explains that Parkinson’s disease is a progressive disorder that affects the nervous system and the parts of the body controlled by nerves. Symptoms start slowly. The first symptom may be a barely noticeable tremor in just one hand. Tremors are common, but the disorder may also cause stiffness or slowing of movement.

According to Mayo Clinic, in the early stages of Parkinson’s disease, a person’s face may show little or no expression. Their arms may not swing when they walk. Their speech may become soft of slurred. Parkinson’s disease symptoms worsen as your condition progresses over time.

Mayo Clinic says there isn’t a specific test to diagnose Parkinson’s disease. A doctor trained in nervous conditions (neurologist) will diagnose Parkinson’s disease based on a person’s medical history, a review of their signs and symptoms, and a neurological and physical examination.

There are some medications that may help a person who has Parkinson’s disease who has problems with walking, movement and tremor. These medications increase or substitute for dopamine. There are also some surgical procedures that may provide some help.

Related Articles on FamilyTree.com:

Study About Parkinson’s Disease Includes Data from 23andMe

Parkinson Foundation Expands Free At-Home Genetic Testing

Study Indicates Vaccine Might Help Those With Parkinson’s Disease

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