Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.

A recent preprint abstract discusses the role of alpha-synuclein in Parkinson's disease. Alpha-synuclein is a protein that accumulates in the brains of Parkinson's patients and forms intraneuronal inclusions called Lewy Bodies. The mechanism behind the dysregulation of alpha-synuclein is not fully understood, but it is believed that cell-to-cell propagation of the protein plays a significant role. The study identified two genes, TAX1BP1 and ADAMTS19, that regulate alpha-synuclein homeostasis and found that knockdown of these genes led to differential expression of other genes associated with Parkinson's disease. The researchers propose a novel model for the genetic architecture of sporadic Parkinson's disease, suggesting that an increased burden of rare risk variants across gene expression networks dysregulates pathways involved in alpha-synuclein homeostasis, leading to pathology and neurodegeneration. It is important to note that this preprint has not yet undergone peer review. [Extracted from the article]