Research Uncovers New Gene Linked to Increased Parkinson’s Disease Risk
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Synopsis
A groundbreaking study reveals that genetic variants in the ITSN1 gene are associated with a significantly heightened risk of Parkinson's disease, which affects 2% of adults over 65. This discovery may lead to new treatment avenues aimed at controlling or preventing the disease's progression.
Key Takeaways
- Identification of ITSN1 gene variants linked to increased Parkinson's disease risk.
- Study involved genetic data from 500,000 UK Biobank participants.
- Carriers of rare ITSN1 variants can face a tenfold higher risk.
- Research highlights the importance of genetic sequencing in neurological disorders.
- Potential for new therapeutic targets in Parkinson’s treatment.
New York, March 9 (NationPress) A group of researchers has made a groundbreaking discovery, linking genetic variations in the gene ITSN1 to a notably increased risk of Parkinson’s disease, a neurodegenerative disorder that impacts nearly 2 percent of individuals over 65 years old.
This research, spearheaded by an international collaboration of scientists at Baylor College of Medicine, AstraZeneca, and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, could lead to innovative treatments aimed at slowing or halting the progression of Parkinson’s disease.
Parkinson’s disease, recognized as the second most prevalent neurodegenerative condition, currently has no known cure.
“To address this significant issue, we examined genetic data from nearly 500,000 UK Biobank participants and found that individuals with rare ITSN1 variants that disrupt the gene’s normal function face up to a tenfold increased risk of developing Parkinson’s disease,” stated author Dr. Ryan S Dhindsa, an assistant professor of pathology and immunology at Baylor College of Medicine.
These results, published in Cell Reports, were later validated across three independent cohorts that included over 8,000 cases and 400,000 controls.
Importantly, ITSN1 carriers tended to experience an earlier onset of the disease.
The significance of this discovery lies in the remarkable impact of ITSN1 on increasing the risk of Parkinson’s disease, especially when contrasted with variants in other well-known genes like LRRK2 and GBA1.
“We concentrate on rare genetic mutations because they often have a substantial impact on disease risk, revealing essential mechanisms of the disease. These genetic findings not only enhance our understanding of Parkinson's biology but also identify promising new targets for therapeutic strategies,” Dhindsa elaborated.
ITSN1 is crucial in mediating how neurons communicate with each other—a process termed synaptic transmission—making it especially pertinent to Parkinson’s disease, a condition where disrupted nerve signals result in typical symptoms such as impaired gait, balance issues, tremors, and rigidity.
“We also demonstrated in fruit flies that lowering ITSN1 levels aggravated Parkinson’s-like characteristics, including climbing ability. We aim to extend these studies to stem cell and mouse models,” Dhindsa noted.
This study emphasizes ITSN1 as a promising target for therapeutics and highlights the importance of extensive genetic sequencing in uncovering rare mutations that contribute to complex neurological disorders.
