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The University of Murcia has participated in the largest worldwide study conducted to date to detect the genetic causes of Parkinson's disease.
This is an investigation conducted by the IPDGC (International Parkinson Disease Consortium) consortium in which Juan A. Botía, professor in the Department of Information and Communications Engineering of the Faculty of Informatics, has collaborated, along with staff from his department.
The UMU is part of the IPDGC, an association of more than 100 researchers from Europe and the US, mainly.
The main asset of this consortium is the centralized management of a very important number of cohorts of patients and controls.
The IPDGC, led by the neurogenetics group of the American National Institutes of Health (NIH), focuses on investigating molecular mechanisms related to Parkinson's disease, especially from the study of mutations that modulate the risk of disease .
In the last study, which has just been published, data from 56,000 cases of people with Parkinson's and 1.4 million people who have not developed the disease were analyzed.
Specifically, the almost eight million mutations that occur naturally in the genome in all human beings have been studied for each of these people.
With this analysis, we have detected which mutations occur most frequently in people who develop Parkinson's and which occur in those who do not have the disease.
In this way you can define those mutations that can estimate the genetic risk of Parkinson's disease, as well as mutations that could have a protective factor.
This is what is called a GWAS (Genome Wide Association Analysis) study.
The role of the UMU group in this study has been to determine, for the Spanish cohort, a mechanism based on machine learning to estimate the genetic risk of suffering from the disease.
The study as a whole investigates the influence of genome mutations in the production of proteins that influence parkinson's development;
which helps to offer theories about how the disease occurs, something not yet sufficiently understood.
This is, today, the study that more individuals have used, and the one that reports more independent signals related to Parkinson's, to date, 90 in total.
Each of these signals can lead to numerous subsequent investigations that lead to a better understanding of the disease at the molecular level.
Source: Universidad de Murcia
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