The study combines ITN1 gene variants with an increased risk of Parkinson’s disease

A new study published in revealing a breakthrough discovery combining genetic variants in the gene with a significantly increased risk of Parkinson’s disease, a neurodegenerative condition that affects almost 2% of adults older than 65 years. This work, conducted by an international team of scientists at Baylor College of Medicine, Astrazeneca and Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, could pave the way for new treatment methods aimed at slowing down or preventing Parkinson’s disease progress.

Parkinson’s disease, the second most common neurodegenerative disorder still has no cure. To satisfy this unsatisfied need, we analyzed the genetic data of almost 500,000 UK Biobank Participants and discovered that people carrying rare variants who impair the normal function of the gene up to ten times higher risk of developing Parkinson’s disease. “

Dr Ryan S. Dhinds, a responding author, an assistant professor of pathology and immunology at Baylor College of Medicine and the main researcher at the Institute of Neurological Research in Jan and Dun Duncan at Texas Children’s Hospital

These discoveries were then approved in three independent cohorts covering over 8,000 cases and 400,000 controls. Importantly, the carriers trained towards the earlier age of the disease.

“What makes this discovery so significant is the unique size of impact on increasing the risk of Parkinson, especially compared to variants in other well -established genes, such as,” said Dhinds.

“We focus on rare genetic mutations, because they often give a great impact on the risk of disease that reveal critical mechanisms of the disease. These genetic discoveries not only deepen our understanding of Parkinson’s biology, but also reveal the promising new goals of therapeutic intervention, “Dhinda explained.

It plays an important role in how neurons send messages to each other – a process called synaptic transmission – which is particularly important for Parkinson’s disease, a state in which the disruption of nerve signals leads to typical symptoms of gait and balance, tremor and stiffness. “In fruit flies we also showed that the reduction of levels worsens Parkinson’s reminiscent features, including the ability to climb. We plan to expand this research to stem cell models, “Dhinds said.

Interestingly, previous studies have recently been associated with similar mutations in autism spectrum disorders (ASD). Other emerging data also suggest the relationship between ASD and Parkinson’s disease, which indicates that people from ASD are three times more vulnerable to the development of parkinsonism. “Our findings support future research to better understand the connections between these two conditions and engaged mechanisms,” Dhinds said.

This study emphasizes as a promising therapeutic goal and emphasizes the value of large -scale genetic sequencing in the identification of rare mutations that contribute to complex neurological disorders.

Other participants of this work are Thomas P. Spargo, Chloe F. Sands, Isabella R. Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C. Butts, Ruth B. DE-Paul, Youngdo Kim, Fenyuan Hu, Muanimik Viddios, Manimik Viddos, Manimilikito Midtleg Tirrlik, Mirko Messa, Guillermo del Angel, Daniel G. Calame, Haurie, Lurie Robak, Ben Holisis, Vishndapah, Huda Y. Zorghbi, Joshua M. Shulman, Slavé Petrovski, Ismael Al-Rammahi and Ioanna Tachmazidou. The authors are associated with one or more of the following institutions: Baylor College of Medicine, Astrazeneca, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Rice University and the University of Melbourne.