An international study coordinated by the University of Massachusetts, USA, hdiscovered a new gene associated with Parkinson’s disease, present in nearly 1 in 100 patients. The research, published in ‘Nature Genetics’, involved scientists from the IRCCS Istituto Auxologico Italiano and the State University of Milan. The work opens up new perspectives for the diagnosis and treatment of the pathology neurodegenerative.
The authors sequenced the exome (the coding region of the genome) of more than 2,000 people with familial Parkinson’s, comparing it with those of almost 70,000 healthy people. They thus identified a Rab32 gene mutation in 0.7% of Parkinson’s patients. Researchers have demonstrated how the mutation of the Rab32 gene significantly increases the kinase activity of the Lrrk2 proteinwhose mutations explain one of the most common genetic forms of Parkinson’s, leading to neurodegeneration. “From a practical point of view – Auxologico and UniMi underline – this discovery could have significant implications for patients”. First of all, “it could improve the ability to diagnose Parkinson’s disease in earlier stages, especially in familial cases, allowing timely interventions”. Furthermore, “a better understanding of the role of Rab32 and Lrrk2 in the disease could lead to the development of new targeted drugs that act on these specific pathogenic mechanisms, thus improving the available treatment options”. Finally, “an improvement in the diagnosis and treatment of Parkinson’s disease can not only improve the quality of life of patients, but can also reduce the economic and social burden associated with this disease”.
“This study represents a significant step forward in understanding the disease of Parkinson’s – says Nicola Ticozzi, director of the Neurology Unit of Auxologico and associate professor of Neurology at Statale, co-author of the study – The identification of a new gene associated with the disease offers new opportunities for research and treatment. Knowing that the Rab32 gene is involved in the pathogenesis of the disease will in fact allow us to explore new biological pathways and potential therapeutic targets”. The Parkinson’s and Movement Disorders Center of the Irccs Auxologico, in addition to being actively involved in research on the disease – a note recalls – offers global and multidisciplinary care of the patient, which includes diagnostic assessment, follow-up and treatment.
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