People carrying a rare genetic mutation have a halved risk of developing Parkinson’s disease compared to those who have a different version of that gene, according to a recent study, reports the Live Science website, cited by Agerpres.
Researchers have begun to provide the first information on how this genetic feature could protect against Parkinson’s disease – by preserving the function of an essential enzyme needed for cell metabolism and survival. In the future, a better understanding of this protective mechanism could lead to new treatments for this disease, the scientists wrote in their report published on January 3 in the specialized journal Molecular Psychiatry.
“This study helps us understand why people might get Parkinson’s and how we might develop new therapies for this devastating disease,” said lead study author Dr. Pinchas Cohen, dean of the University of California Leonard Davis School of Gerontology. of the South (USC), quoted in a press release.
Parkinson’s disease occurs when the cells in the brain responsible for controlling movement die over time. The loss of these neurons causes the well-known symptoms of the disease, such as tremors, muscle stiffness and impaired balance, as well as lesser-known effects, including emotional changes, sleep disturbances and cognitive decline. Scientists don’t fully know what exactly triggers the loss of neurons in Parkinson’s disease, but a dysfunction of the mitochondria, the cells’ energy factories, has long been considered a hallmark of the condition.
The genetic mutation discovered in the new study is associated with the function of mitochondria, which underlines the importance of this connection. Most of our DNA resides in the cells’ control centers, or nuclei, but mitochondria actually carry their own set of DNA that is passed down from mother to offspring. In previous studies, Cohen and his colleagues discovered that a small protein produced in the mitochondria, called SHLP2, appears to hold the key to the function of these powerhouses and declines with age. Later, other researchers found that certain versions of the associated gene SHLP2 were linked to a lower risk of Parkinson’s disease, but the reason was not clear.
Therefore, Cohen and his collaborators focused on the SHLP2 gene in their latest study. They first analyzed different versions of the gene in the mitochondrial DNA of thousands of people who participated in three large, long-term studies.
The protective version of SHLP2 occurred in 1% of these individuals, all of whom were of European descent, and was associated with a halving of the risk of developing Parkinson’s disease compared to other versions of the gene. Through laboratory experiments with human cells and additional tests in mice, the researchers discovered that the gene variant would enhance both the stability and prevalence of the SHLP2 protein.
These changes, in turn, prevent the dysfunction of a key enzyme in the mitochondria, they found. Taken together, the researchers’ results suggest that a potential treatment strategy for Parkinson’s disease could involve delivering this highly stable and protective SHLP2 protein to cells to help maintain proper mitochondrial function. But, to confirm the effectiveness, many more studies will be needed.
“Our data highlight the biological effects of a particular gene variant and the potential molecular mechanisms by which this mutation may reduce the risk of Parkinson’s disease,” lead author Su-Jeong Kim, from USC Leonard Davis, said in the release. “These findings can guide the development of therapies and provide a roadmap for understanding other mutations identified in mitochondrial microproteins,” she added.
2024-01-14 22:40:01
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