Researchers have identified a new pathological mechanism for a familial type of Parkinson's disease caused by a mutation in the CHCHD2 gene. Mutant CHCHD2 protein is mislocalized in cells and leads to alpha-synuclein protein aggregates via interactions with another protein, known as Csnk1e/d. These findings indicate that Csnk1e/d inhibition may slow or halt Parkinson's disease development in patients with CHCHD2 mutations, providing new hope for affected families.
Parkinson's disease, characterized by various motor dysfunctions, is the second most common neurodegenerative disorder in the world. It is known that specific gene mutations that are passed down through families are responsible for some cases of Parkinson's disease. But now, researchers from Japan have found that this might open the doors to new therapies.
Motor disorders seen in Parkinson's disease are caused by the death of cells that produce dopamine -- an important molecule for cellular communication -- in a brain region known as the substantia nigra. In this region, protein aggregates containing a protein known as alpha-synuclein form. However, the exact cause and the process remains unknown.
Researchers from TMDU decided to investigate these mechanisms in a familial form of Parkinson's disease caused by mutations in, a gene encoding a specific domain containing two CHCHD2 proteins. To do this, they induced a"When we looked at normal CHCHD2 protein in cells, it was located in the mitochondria, which provides energy to the cell," says lead author of the study Satoru Torii.
Because the mutant CHCHD2 caused Parkinson's disease-related pathology in cells, the researchers investigated its effects in mice using two different methods of expressing mutant CHCHD2. All mice withmutation had motor impairments, and their brains showed mislocalized CHCHD2 and aggregated alpha-synuclein in the dopamine-producing cells of the substantia nigra.
Given that there are currently no treatments that effectively slow or halt the progression of Parkinson's disease, the findings of this study are very encouraging, especially for patients withmutations. The results also improve our understanding of how Parkinson's disease can develop in the brain and bring hope to all patients and their families.
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