Examining the so-called Basque mutation of P... ( This press release is available in...)

Examining the so-called Basque mutation of Parkinson's

Date:1/31/2013

This press release is available in Spanish.

The relationship between genetics and Parkinson's has been investigated for more than a decade, but it is only over the last few years that significant results have begun to be obtained. The first mutations related to the development of this disease were found in 2004. A team from the UPV/EHU-University of the Basque Country came across a mutation of the LRRK2 gene, which is particularly prevalent among the population of Gipuzkoa. It is the R1441G mutation and is known as the Basque mutation. Now, Doctor Javier Ruiz, a doctor on the same team, has submitted a thesis in which he has studied this mutation; apart from the study of its prevalence, the study includes the calculation of its penetrance, the description of its clinical phenotype, its progression, and the neuropathological study of a patient carrying this mutation. The results have been published in the prestigious journals Neurogenetics and Movement Disorders.

In actual fact, it was no easy task relating Parkinson's with certain genes. "At first, one-off descriptions were made and they pointed to the old idea that Parkinson's was something sporadic, but this is not true," says Ruiz, the author of the study. When a decade ago people began to say that there were family forms, the genes were not these ones. They were genes that accounted for a type of Parkinson's that was slightly different, and which was somewhat removed from the classical Parkinson's that we could all see.

The gene studied by Ruiz's team and which codifies the protein they called dardarina, does, however, explain a type of Parkinson's which is the common one. Nevertheless, that gene is not the only one related to the disease. "Right now, genes continue to be discovered," explains Ruiz. "There is a list of about 15 or 16 genes involved in the monogenic forms of Parki
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Contact: Aitziber Lasa
a.lasa@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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