Scientists have identified more than 20 genes that contribute to familial forms of Parkinson’s disease. One of these genes, VPS13C, has been found to play a crucial role in maintaining cellular waste management. Mutations in this gene can lead to the malfunctioning of “garbage cans” within cells, resulting in toxic substances leaking into brain cells and contributing to the onset of Parkinson’s disease.
Researchers at Yale University have discovered that when lysosomes, the cells’ waste management system, are damaged, VPS13C proteins rapidly respond to repair them. These proteins act as a bridge between the damaged lysosome and the endoplasmic reticulum, allowing lipids to flow across it to help mend the membrane.
The study’s findings suggest that the dysfunction of lysosomes may be a key mechanism in the development of Parkinson’s disease. However, the researchers also found that VPS13C proteins respond differently than another protein, LRRK2, which is also linked to the disease. This difference highlights the complexity of Parkinson’s disease and underscores the need for further research.
The study’s authors hope to better understand the functions of VPS13C proteins and their relationship with other genes associated with Parkinson’s disease. By identifying the cellular processes that are vulnerable to defects in multiple genes, scientists may be able to develop more effective treatments for the condition by targeting specific genes or pathways.
Source: https://medicine.yale.edu/news-article/damaged-cell-trash-cans-may-contribute-to-parkinsons-disease