trustpilot Fantastic service
Great service with regard to both information…

02  4948  5291

Aurora magazine

Novel genetic mutation discovered in Parkinson's disease patient

Researchers Eduardo Tolosa and Dolores Vilas have found a new mutation associated with Parkinson's disease. The discovery was made during a study of 62 Parkinson's patients held on the island of Minorca. For the time being, they identified the mutation on a single patient, a 74-year-old man.

Scholars are still looking for all the genetic causes of Parkinson's. To date, they have identified five possible genetic sites involved in the development of the disease. Nevertheless, in the case of ACMSD, they had not yet found any disease-related mutations. The first case was that identified by Spanish researchers. According to the two, this would be a rare variation that would increase the risk of developing Parkinson's.

The man with the mutation in the ACMSD gene had no case of Parkinson's in the family. Moreover, it did not show any of the most common mutations associated with the disease. Discovery suggests that the new mutation could be an important risk factor for Parkinson's development. Many scholars have already linked the gene to the disease, and no mutation has been reported.

The ACMSD gene encodes for an enzyme involved in the pathway of the kinurenine. Some kinurenine metabolites play an important role in the functioning of the central nervous system. In some cases, they can cause inflammation and common types of neurodegeneration in Parkinson's. Discovery could thus help to better understand the disease and develop new therapies.