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:8/27/2014)... August 27, 2014 Taking its popular obstacle ... Steele Creek YMCA will host its largest crowd at ... Saturday, September 13 at YMCA Camp Thunderbird . ... divisions: adult, youth and teams. Within each division, runners ... their physical limit - for a worthy cause. All ...
(Date:8/27/2014)... 2014 Shawna's new book, released in ... Seed Digging, which a brand-new technique she created. Seed ... works to bring permanent healing quickly. , According to ... health disorders cured on a daily basis. It teaches ... and find incredible inner peace with only a few ...
(Date:8/27/2014)... Top 10 Best SEO Hosting, a well-known SEO ... and announced iPage, Bluehost and GoDaddy are the most recommended ... Europe to buy useful hosting (including VPS and cloud hosting). ... iPage has been serving hosting small business websites since ... into a leader in the hosting industry for its affordable ...
(Date:8/27/2014)... 2014 The Latinos In Action Festival ... 7th at the Florida State Fair Grounds from 9am ... art and cultures from around the world. Latinos in ... Go Smart Mobile and Univision Mobile, a service provided ... an estimate of 4,000 people from different backgrounds, cultures ...
(Date:8/27/2014)... Dennis Thompson HealthDay Reporter ... who has been mugged in a dark alley will likely ... a fear of being attacked. But neuroscientists working with ... memories are linked with positive and negative emotions. And in ... attached to a memory. In essence, they made once-reluctant ...
Breaking Medicine News(10 mins):Health News:C2 Survival Racers Go to Extremes to Provide Kids with YMCA Programs 2Health News:Shawna Burns, Counselor, Releases Debut Book, "Seed Digging," to Improve Lives of Children and Adults with Addictions and Mental Health Disorders 2Health News:Well-known SEO Hosts Review Site Top10BestSEOHosting.com Recommends iPage, Bluehost and GoDaddy To Webmasters 2Health News:Marc Anthony to Perform at "Nieves Productions" Latinos in Action Festival 2Health News:Scientists 'Rewrite' Bad Memories in Mice 2Health News:Scientists 'Rewrite' Bad Memories in Mice 3
... to thousands who need it, experts say , ... patient and therapist texting each other in real-time can ... patients new access to much-needed treatment, researchers say. , ... research and practice involving technology-based treatments for depression and ...
... YORK (Aug. 27-29, 2009) -- More than half a million ... do not have the specific skills necessary to cope with ... leave the hospital. More than 850 burn survivors and ... the country are expected to attend the Phoenix Society for ...
... , WEST CHICAGO, Ill., Aug. 20 The Northern Illinois ... been named Chair of its board of directors. Murer, who previously ... and concluded a two year term as Chair of the NIU Board ... am honored to lead this distinguished group of board members who are ...
... , NEW YORK, Aug. 20 Today, ... m ), an online global think tank featuring video interviews with ... new multimedia web series exploring the cutting edge of medical science ( ... The online series answers a range of questions on some ...
... , , WASHINGTON, Aug. 20 ... support of a national "March for Healthcare" in Washington on September ... public option, Fattah announced today. , , ... he is calling on colleagues in Congress to endorse the proposal ...
... ... Southwestern Cattle Raisers Association (TSCRA) Insurance Services is helping its communities get ready for the ... care measures that will not only save them money, but also help them maintain a ... Fort Worth, ...
Cached Medicine News:Health News:Web-Based Psychotherapy Can Work 2Health News:Web-Based Psychotherapy Can Work 3Health News:Learning how to cope with burn injuries 2Health News:Learning how to cope with burn injuries 3Health News:Healthcare Expert Cherilyn Murer Named to Head Northern Illinois Proton Board 2Health News:Online Think Tank Big Think Launches New Multimedia Web Series Exploring Some of the Most Pressing Science and Medical Issues of our Time 2Health News:Online Think Tank Big Think Launches New Multimedia Web Series Exploring Some of the Most Pressing Science and Medical Issues of our Time 3Health News:Online Think Tank Big Think Launches New Multimedia Web Series Exploring Some of the Most Pressing Science and Medical Issues of our Time 4Health News:TSCRA Insurance Services Shares Importance of Back-to-School Preventative Health Care 2Health News:TSCRA Insurance Services Shares Importance of Back-to-School Preventative Health Care 3
(Date:8/27/2014)... , Aug. 27, 2014 Reportlinker.com announces that ... catalogue: Baby Food Eastern Europe 2014 ... Food Eastern Europe 2014" is a new report by ... in Eastern Europe , key segments, ... This report also examines trends which are currently affecting ...
(Date:8/27/2014)... 2014 An experimental drug designed to help regulate ... treatment for anemia of inflammation, according to results from the ... today in Blood , the Journal of ... Anemia is a condition that occurs when red blood ... When an individual has anemia, the body does not get ...
(Date:8/27/2014)... , Aug. 27, 2014 North American lighting ... prestigious R&D 100 Award for the new OSRAM ITOS ® ... LED-based white light module for microscopy, endoscopy and surgical head ... with significantly higher efficacy and lamp life. "We,re ... one of the most innovative new technologies of the past ...
Breaking Medicine Technology:Baby Food Eastern Europe 2014 2Baby Food Eastern Europe 2014 3Baby Food Eastern Europe 2014 4Baby Food Eastern Europe 2014 5Baby Food Eastern Europe 2014 6Baby Food Eastern Europe 2014 7Baby Food Eastern Europe 2014 8Drug Represents First Potential Treatment for Common Anemia 2Drug Represents First Potential Treatment for Common Anemia 3OSRAM ITOS PHASER 3000 Laser and LED Light Module Recognized With Prestigious R&D 100 Award 2OSRAM ITOS PHASER 3000 Laser and LED Light Module Recognized With Prestigious R&D 100 Award 3
... 10, 2011 Anadys Pharmaceuticals, Inc. (Nasdaq: ANDS ... Annual J.P. Morgan Healthcare Conference on Thursday, January 13, 2011 ... being held at Westin St. Francis Hotel in San Francisco. ... will provide an overview of Anadys and its clinical development ...
... Mich., Jan. 10, 2011 Nopras Technologies, ... which specializes in services for organizations in the ... industries announced on January 10th, 2011 that it ... Nopras Technologies, well documented procedures and processes, ...
Cached Medicine Technology:Anadys Pharmaceuticals to Present at the J.P. Morgan Healthcare Conference 2Nopras Technologies, Inc. Achieves ISO 9001:2008 Certification 2
... ACUSON CV70 cardiovascular ultrasound system provides ... a powerful, all-digital ultrasound system offering ... flow sensitivity and spatial resolution ... family of cardiovascular products. Designed ...
Aplio was designed for intuitive operation so you can get the results you are looking for quickly and easily. From customizable measurement packages to an ergonomic platform design, Aplio was built m...
AngioSpeed V series, it is an Angiography system designed for vascular treatment in various radiological regions, cardiology, and neurology. SHIMADZU brings you a single system with all units fused t...
This catheter is intended for ultrasound examination of coronary intravascular pathology ONLY. Intravascular ultrasound imaging is indicated in patients who are candidates for transluminal coronary i...
Medicine Products: