Doctor Javier Ruiz investigates in depth the Basque mutation of Parkinson

2013/02/13 Roa Zubia, Guillermo - Elhuyar Zientzia Iturria: Elhuyar aldizkaria

• Medikuntza

The doctoral thesis of doctor Javier Ruiz has focused on the R1441G mutation related to Parkinson. A UPV/EHU team found it in 2004 and realized that the population of Gipuzkoa is very prevalent. That is why it is called a Basque mutation. Now, Ruiz has presented in his doctoral thesis an exhaustive study of the Basque mutation, thanks, among other things, to the follow-up carried out to four Gipuzkoan families. The results of the study have been published in the specialized journals Neurogenetics and Movement Disorders. The protein encoding this gene was called vibrarin and explains the type of normal parkinson's. However, this gene is not the only one associated with the disease. “More genes are being discovered right now,” explains Ruiz. “There is a list of 15 or 16 genes found in the monogenic forms of parkinson’s, that is, in the forms of the disease that can be associated with a certain mutation. But this LRRK2 gene is the most important in frequency, it is the one that has been seen the most in the world population.” One of the lines of research is in the search for the function of vibration from the point of view of neuronal death, since vibration is related to this process in certain brain structures, but they still do not know exactly what its function is. “We know that there are gene mutations that make protein do things, but we don’t know exactly what the Basque mutation does,” says Ruiz. The first question, according to Ruiz, is to know what it means to have a mutation. It is the investigation of the penetration he has made in his thesis. “Having a mutation means having 83% chance of having Parkinson’s when you’re 80,” she explains. Ruiz has also studied whether the mutation only appears in patients or is common in the general population. To do this, he took samples of the population of Azpeitia and Azkoitia, where the largest number of patients are concentrated, finding that the mutation is 1.8% of the general population. In addition, we investigated whether parkinson associated with the R1441G mutation is similar to that of the G2019S mutation, another conventional mutation. “In parkinson’s research it is very fashionable to investigate non-motor symptoms,” explains Ruiz. The result of the study indicates that there are fewer symptoms in the case of the Basque mutation. “With this, what can I contribute to science and my patients? It is possible that there is an early diagnosis and a first target population that can receive neuroprotective treatment of the future, since there is still no such treatment,” says Ruiz. Therefore, another part of the research has focused on the search for biomarkers for mutation carriers. These biomarkers will indicate who is most at risk for the disease. As a marker to investigate, the study proposes a sympathetic dysfunction measured by olfactory dysfunction and cardiac scan. “We are indebted to the population, patients’ relatives have donated blood to carry out this research voluntarily,” explains Ruiz. “We have to give them answers.”