Navigation Links
Examining the so-called Basque mutation of Parkinson's
Date:1/31/2013

nson'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 popu
'/>"/>

Contact: Aitziber Lasa
a.lasa@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert  

Page: 1 2 3

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:9/20/2014)... "As a nurse, patients always ask me how ... from Tamaqua, Pa. "The reason that they cannot tell is ... chairs. My invention enables them to check oxygen levels on ... make it easier to monitor the contents of an oxygen ... tank is low. It allows changeovers to be performed under ...
(Date:9/20/2014)... Los Angeles, CA (PRWEB) September 20, 2014 ... power score of 3.1 out of 5, indicating a ... research firm IBISWorld, this score reflects current and future ... negotiate from historically high prices. Other factors that negatively ... volatility in demand for construction and the moderate switching ...
(Date:9/20/2014)... Wisconsin (PRWEB) September 20, 2014 QueenBeeTickets.com ... the young star’s tour performances. She will visit many ... of February until the 16th of April. , ... Grande Honeymoon Tour tickets at QueenBeeTickets.com. , The star’s ... opportunity to see their favorite young singer in a ...
(Date:9/20/2014)... (PRWEB) September 20, 2014 Final Cut ... announced the release of the Information theme for FCPX filmmakers. ... use to describe the Information theme,” says Christina Austin, CEO ... to look so professional.” , Information features easy to use ... parameters of the environment. Change the background color, color of ...
(Date:9/20/2014)... 2014 The first federal bellwether trial ... its third week in the U.S. District Court, Northern ... documents indicate that the week opened in the ... a DePuy Orthopaedics vice president, who discussed the clinical ... Pinnacle hip replacement. According to Reuters, the executive stated ...
Breaking Medicine News(10 mins):Health News:Plumbing Construction Services Procurement Category Market Research Report from IBISWorld Has Been Updated 2Health News:Plumbing Construction Services Procurement Category Market Research Report from IBISWorld Has Been Updated 3Health News:Plumbing Construction Services Procurement Category Market Research Report from IBISWorld Has Been Updated 4Health News:Discount Ariana Grande Tickets: QueenBeeTickets.com Delights Fans with Discount Concert Tickets for Ariana Grande’s 2015 Honeymoon Tour 2Health News:Today Pixel Film Studios Announced the Release of the Information Theme for Final Cut Pro X 2Health News:Third Week of DePuy Pinnacle Hip Lawsuit Trial Focuses on Clinical Testing of Metal-on-Metal Hip Implant, Wright & Schulte LLC Reports 2Health News:Third Week of DePuy Pinnacle Hip Lawsuit Trial Focuses on Clinical Testing of Metal-on-Metal Hip Implant, Wright & Schulte LLC Reports 3Health News:Third Week of DePuy Pinnacle Hip Lawsuit Trial Focuses on Clinical Testing of Metal-on-Metal Hip Implant, Wright & Schulte LLC Reports 4
... Susan Desmond-Hellmann, MD, MPH, will be inducted today ... alongside some of the world,s other most distinguished ... a renowned oncologist and biotechnology leader who now ... was among five members of the 210 new ...
... technique appears to offer quick and effective relief for ... cancer, researchers reported at the 35th Congress of the ... Many patients with multiple myeloma, or those whose cancer ... fractures in their spine. This is partly because the ...
... Diseases, part of the National Institutes of Health, has ... Virginia Bioinformatics Institute (VBI) and collaborators to determine how ... of the gut. The funding will be used to ... to gut pathogens. "The Center for Modeling Immunity ...
... HealthDay Reporter , FRIDAY, Oct. 8 (HealthDay News) -- Researchers ... may double the odds that a child will develop a ... The study authors aren,t calling for an end to childhood ... such as pneumonia and broken bones. And the study doesn,t ...
... treatment has shown encouraging activity as a first-line therapy ... Congress of the European Society for Medical Oncology (ESMO) ... MD, Mayo Clinic in Florida, presented the results of ... a first-line treatment for metastatic breast cancer. ...
... the European Health Award 2010 handed to the Chronic Disease ... 6 9 October 2010. The ESC was instrumental ... health professionals. The stepping stone was a policy conference organised ... together 10 European health organisations. In just a year, the ...
Cached Medicine News:Health News:UCSF Chancellor inducted into Academy of Arts and Sciences 2Health News:UCSF Chancellor inducted into Academy of Arts and Sciences 3Health News:Surgical technique relieves painful spine fractures in patients with metastatic cancer 2Health News:Virginia Bioinformatics Institute to model immune responses to gut pathogens 2Health News:Virginia Bioinformatics Institute to model immune responses to gut pathogens 3Health News:3 or More X-Rays May Raise Leukemia Risk Among Kids: Study 2Health News:3 or More X-Rays May Raise Leukemia Risk Among Kids: Study 3Health News:Targeted therapy promising for HER2-positive metastatic breast cancer 2Health News:Chronic Disease Alliance receives European Health Award 2010 2Health News:Chronic Disease Alliance receives European Health Award 2010 3Health News:Chronic Disease Alliance receives European Health Award 2010 4
(Date:9/19/2014)...  The board of directors of AbbVie Inc. (NYSE: ... of $0.42 per share.  The cash ... record at the close of business on Oct. 15, ... research-based biopharmaceutical company formed in 2013 following separation from ... dedicated people and unique approach to innovation to develop ...
(Date:9/19/2014)... WHITEHOUSE STATION, N.J. , Sept. 19, 2014 Merck ... the United States and Canada , ... on Desafiando La Diabetes: Logra Tus Metas , an educational ... of their blood sugar -- a key treatment goal to help ... the United States are at a higher risk for ...
(Date:9/19/2014)... 19, 2014 Larry J. Merlo , President ... will speak before the National Press Club in ... recent move to stop selling tobacco products and its leadership ... health. "Dramatic changes in our health care system ... government," Merlo has said. "CVS Health has a truly unique ...
Breaking Medicine Technology:Celebrity Chef Leticia Moreinos Schwartz Partners with Merck on Desafiando La Diabetes: Logra Tus Metas to Urge Hispanics With Type 2 Diabetes to Get to Their A1C Goal 2Celebrity Chef Leticia Moreinos Schwartz Partners with Merck on Desafiando La Diabetes: Logra Tus Metas to Urge Hispanics With Type 2 Diabetes to Get to Their A1C Goal 3Celebrity Chef Leticia Moreinos Schwartz Partners with Merck on Desafiando La Diabetes: Logra Tus Metas to Urge Hispanics With Type 2 Diabetes to Get to Their A1C Goal 4Celebrity Chef Leticia Moreinos Schwartz Partners with Merck on Desafiando La Diabetes: Logra Tus Metas to Urge Hispanics With Type 2 Diabetes to Get to Their A1C Goal 5CVS Health CEO to Address National Press Club on Landmark Decision to Quit Tobacco, Leadership in Health Care Innovation 2CVS Health CEO to Address National Press Club on Landmark Decision to Quit Tobacco, Leadership in Health Care Innovation 3
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
Medicine Products: