Navigation Links
Examining the so-called Basque mutation of Parkinson's

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 Parkinson's, in other words, forms of the disease that can be associated with a specific mutation. This gene is the most important from the point of view of frequency, it is the one most seen in the world population."

However, it is not known what dardarina, the protein that encodes the gene studied, actually does. One of the lines of research is seeking the function of dardarina from the point of view of neuronal death, since it is linked to this process in certain specific brain structures, but its exact role is not yet known.

"Different mutations of the gene are known to cause the protein to do different things, but what the so-called Basque mutation actually does is not fully understood. There is another mutation that is more prevalent worldwide, the G2019S, which is the best known one. It has a more enzymatic activity; it is a kinase, in other words, a protein that transfers phosphate groups from one molecule to another," says Ruiz.

Questions and answers

In this thesis Ruiz studied four families in Gipuzkoa who have the R1441G mutation, and he did this from a range of perspectives. "Well, I've got families with Parkinson's and I want to know why. I do research, but I'm also a clinician, and I'm in contact with patients every day, and the questions I get from them I then transfer to the research," he says.

Ruiz says that the first question is about knowing what having a mutation means. It is the study of penetrance that he did in his thesis; "having a mutation means that by the time you're 80 you have an 83% chance of having Parkinson's," he explains.

Another question is whether the mutation is something by chance or is frequent in the Basque Country. What is more, Ruiz has studied whether the mutation only appears in the patients or whether it is common in the general population. That is why he took samples from people in Azpeitia and Azkoitia, which is where the highest number of patients are, and he found that 1.8% of the general population have it.

He also looked into whether the Parkinson's associated with this mutation, R1441G, is similar to that associated with the G2019S. "Studying the non-motor symptoms is very much in vogue in Parkinson's research," says Ruiz. The result of the study indicates that these symptoms are less present in the case of the Basque mutation.

"And armed with this, what can I contribute to science and to my patients? Well, an early diagnosis perhaps, and having a target population that could be the first to benefit from a future neuroprotective treatment, which, it has to be said, does not yet exist," says Ruiz. That is why another part of the research has focused on the quest for biomarkers in people carrying the mutation, since they indicate who has a greater risk of contracting the disease. The study proposes olfactory dysfunction and sympathetic dysfunction measured by cardiac gammagraphy as markers to be studied.

Besides the results obtained, the thesis also points to the lines along which the research needs to be continued. "You owe that to the population; the patients' relatives have altruistically donated their blood to enable us to do this study," explains Ruiz. "We will have to give them answers."


Contact: Aitziber Lasa
Elhuyar Fundazioa

Related medicine news :

1. Cellulite Factor: Review Examining Dr. Charles Livingston’s Program Released By
2. Burn the Fat, Feed the Muscle: Review Examining Tom Venuto’s Training Program Released by
3. Primal Burn: Review Examining Ken Smith’s Fat Burner System Released By
4. ThinMist: Review Examining Weight Loss Spray Supplement that Boosts Metabolism Released by
5. Hyper Gain: Review Examining ASR's Creatine Supplement Released By
6. 10 Minute Seduction: Review Examining Brad P's Training Course For Rapid Escalation Released by
7. Boost Your Bust: Review Examining Jenny Bolton's Breast Enlargement System Released by
8. The Tao Of Badass: Review Examining Joshua Pellicer's Program Released By Vandenhoff Coaching
9. The Magic Of Making Up: Review Examining T Dub's "Get Your Ex Back" Program Released By
10. Fat Loss 4 Idiots: Review Examining New "Accelerated Fat Loss Diet" Released By
11. Visual Impact Muscle Building: Review Examining Rusty Moore's Training Program Released By
Post Your Comments:
Related Image:
Examining the so-called Basque mutation of Parkinson's
(Date:6/24/2016)... Dallas, Texas (PRWEB) , ... June 24, 2016 ... ... 12th International Conference and Scientific Sessions in Dallas that it will receive two ... Announcement of the grants came as PHA marked its 25th anniversary by recognizing ...
(Date:6/24/2016)... ... June 24, 2016 , ... Dr. Amanda Cheng, an ... Dr. Cheng has extensive experience with all areas of orthodontics, including robotic Suresmile ... orthodontics. , Micro-osteoperforation is a revolutionary adjunct to orthodontic treatment. It can ...
(Date:6/24/2016)... NY (PRWEB) , ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin ... companies that call for a minimum wage raise to $12 an hour by 2020 and ... This will restore the lost value of the minimum wage, assure the wage floor does ...
(Date:6/24/2016)... ... June 24, 2016 , ... EB Medicine presented ... in Emergency Medicine conference in Ponte Vedra Beach, FL. The awards honor the ... Emergency Medicine Practice and Pediatric Emergency Medicine Practice. , “With this award, ...
(Date:6/24/2016)... ... June 24, 2016 , ... Puradigm® ... Group (TGIG), has initiated cultivation and processing operations at its production facility, and ... Nevada. , Puradigm is the manufacturer of a complete system of proactive air ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... 2016 Dehaier Medical Systems Ltd. (NASDAQ: ... markets and sells medical devices and wearable sleep respiratory ... strategic cooperation agreement with Hongyuan Supply Chain Management Co., ... June 20, 2016, to develop Dehaier,s new Internet medical ... Dehaier will leverage Hongyuan Supply Chain,s sales platform to ...
(Date:6/24/2016)... , June 24, 2016 ... appointment of Dr. Edward Futcher to ... Director, effective June 23, 2016.Dr. Futcher was also ... and Governance Committees.  As a non-executive member of ... expertise and strategic counsel to VolitionRx in connection ...
(Date:6/23/2016)... , June 23, 2016 ... "Pharmaceutical Excipients Market by Type (Organic Chemical (Sugar, ... Formulation (Oral, Topical, Coating, Parenteral) - Global Forecast to ... The global pharmaceutical excipients market ... at a CAGR of 6.1% in the forecast period ...
Breaking Medicine Technology: