New Gene Variant Protects Against Parkinson’s Disease – Study. A newly discovered genetic mutation in a small protein, SHLP2, has been found to provide significant protection against Parkinson’s disease. Individuals with this mutation are half as likely to develop the disease as those who do not carry it.

The variant form of the protein is relatively rare and is found primarily in people of European descent. The mutation, a single nucleotide polymorphism (SNP), is essentially a “gain-of-function” mutation, and the SHLP2 variant has high stability compared to the more common type, providing enhanced protection. This discovery paves the way for exploring SHLP2 as a potential therapeutic target for Parkinson’s disease.

The study, conducted by the USC Leonard Davis School of Gerontology, advances our understanding of the development of Parkinson’s disease and the potential for developing new therapies. The research highlights the relevance of exploring mitochondrial-derived microproteins as a new approach to understanding and potentially treating the disease.

The existing therapies for Parkinson’s disease are limited to supportive care that partially alleviates symptoms, and there is currently no cure for the disease. However, the discovery of the protective role of the SHLP2 variant opens up new possibilities for the development of targeted treatments for Parkinson’s disease.

Study Background

• Mitochondria, the powerhouses of our cells, play a crucial role in Parkinson’s.
• Tiny proteins called mitochondrial-derived peptides (MDPs) influence mitochondrial health.
• One MDP, SHLP2, is known to boost mitochondrial function and fight oxidative stress.

The Discover

• Scientists studied a specific change (m.2158 T > C) in the SHLP2 gene, replacing an amino acid (lysine) with another (arginine).
• This “K4R” version of SHLP2 was linked to lower risk of Parkinson’s in several large datasets.

More…

• The researchers delved into how K4R SHLP2 works.
• They found it sits within the inner membrane of mitochondria, close to a key energy-generating complex.
• K4R SHLP2 also seems to stabilize NAD+, a vital molecule for healthy mitochondria.

Testing the Defense

• In lab experiments, K4R SHLP2 protected cells from mitochondrial damage and cell death associated with Parkinson’s.
• In mice, K4R SHLP2 shielded brain cells from the toxic effects of a Parkinson’s-inducing compound.

The Takeaway

• This study sheds light on a novel player in Parkinson’s defense: K4R SHLP2.
• Targeting this form of SHLP2 for therapeutic development holds exciting potential.
• Further research is needed to fully understand its potential and translate these findings into clinical applications.

In summary, the newly discovered genetic mutation in the small protein SHLP2 offers significant protection against Parkinson’s disease, providing hope for the development of new therapeutic approaches. This finding represents a promising advancement in the understanding and potential treatment of Parkinson’s disease.

Also read: Are Parkinson’s Disease Risk Factors Avoidable? Study Identify Few

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