Navigation Links
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 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
a.lasa@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert  

Related medicine news :

1. Cellulite Factor: Review Examining Dr. Charles Livingston’s Program Released By CelluliteFactorReviews.org
2. Burn the Fat, Feed the Muscle: Review Examining Tom Venuto’s Training Program Released by QuickMuscleBuildingTips.com
3. Primal Burn: Review Examining Ken Smith’s Fat Burner System Released By HealthAvenger.com
4. ThinMist: Review Examining Weight Loss Spray Supplement that Boosts Metabolism Released by HealthAvenger.com
5. Hyper Gain: Review Examining ASR's Creatine Supplement Released By QuickMuscleBuildingTips.com
6. 10 Minute Seduction: Review Examining Brad P's Training Course For Rapid Escalation Released by PUABooks.net
7. Boost Your Bust: Review Examining Jenny Bolton's Breast Enlargement System Released by HonestyFirstReviews.com
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 ConquerHisHeart.com
10. Fat Loss 4 Idiots: Review Examining New "Accelerated Fat Loss Diet" Released By DietsAndFitnessGuides.com
11. Visual Impact Muscle Building: Review Examining Rusty Moore's Training Program Released By DietsAndFitnessGuides.com
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Examining the so-called Basque mutation of Parkinson's
(Date:1/22/2017)... ... January 22, 2017 , ... Phytocéane invites clients to take an exotic ... the world with ZANZIBAR MILKY CREAM. Inspired by the beauty of Zanzibar, a Tanzanian ... Oil and moisturizing vegetal coral to create this gentle, velvety body cream to envelop ...
(Date:1/21/2017)... Raton, FL (PRWEB) , ... January 21, 2017 , ... ... Germany, announced it is bringing its product to the United States as part of ... over the last 25 years, Alcovit aims to reduce the productions of nasty toxins ...
(Date:1/21/2017)... Santa Rosa, CA (PRWEB) , ... January 21, ... ... to announce that Redwood Family Dermatology has recently joined their multi-specialty ... and a full range of cosmetic services. , “We’re excited to add this ...
(Date:1/20/2017)... ... January 20, 2017 , ... A new partnership between Goodwill® and Roadie, ... use or need, from clothes to couches to dressers and bicycles. Roadie — the ... to the nearest Goodwill donation center through February 28th. , “January is an ...
(Date:1/20/2017)... ... ... Lice Troopers, the lice removal company based in South Florida, has seen ... season. , “It happens every year around this time,” says owner, Arie Harel. ... is the head-to-head gateway that lice need to spread.” , As children return to ...
Breaking Medicine News(10 mins):
(Date:1/19/2017)... January 19, 2017 ... Oncology & Haematology, 2016;12(Suppl 2):3-8; http://www.touchoncology.com/articles/optimising-clinical-outcomes-gastrointestinal-cancers-through-inhibiting-angiogenesis-and ... ... Published recently in a supplement to ... from touchONCOLOGY, an article by James Gilbart ...
(Date:1/19/2017)... , Jan. 19, 2017 ViewRay, Inc. (Nasdaq: ... federal institution supporting research in Germany ... patient treatments at the University Clinic Heidelberg as part ... The MRIdian Linac program will be headed by Medical ... heads radiation oncology at the German Cancer Research Center ...
(Date:1/19/2017)... 19, 2017   Science Exchange , the leading ... that the first five replication studies from the ... published in eLife today. Despite intense scrutiny around ... practical evaluation of reproducibility rates that may identify ... other assessments of reproducibility, the results of this ...
Breaking Medicine Technology: