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 Parki
'/>"/>

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:8/28/2014)... 28, 2014 The Governor of Yucatán, ... at a press conference; this event is organized ... Ministry of Economy through the National Microenterprise Financing Program ... 2nd to the 5th at the Convention Center Yucatan ... is a great responsibility for Yucatan to host the ...
(Date:8/28/2014)... Kirklyn Smith, an office manager for ... new world’s record by walking 5,000 miles in a single ... amazed by the thousands of individual stories of TrekDesk treadmill ... stand out more than the others. , Kirklyn has launched ... which tallies a range of 54,823 steps (presumably on an ...
(Date:8/28/2014)... Bank lending to the private sector in the ... in real terms, and continuing to fall behind the rest ... the international accountancy network. , UHY warns that the figures ... credit crunch lingers on. , UHY says in the US, ... been wiped out by inflation. Over the four years since ...
(Date:8/28/2014)... sleep not only puts teens at risk for poor grades, ... warn. The study authors analyzed data collected from more ... Nearly one-fifth of them got less than six hours of ... group was 20 percent more likely to be obese at ... of sleep per night at age 16, the investigators found. ...
(Date:8/28/2014)... the earliest birds take wing? Did they fall from trees ... did they run along the ground and pump their "arms" ... years in the past, but a new University of California, ... have an innate ability to maneuver in midair, a talent ... than fall from a perch. , The study looked at ...
Breaking Medicine News(10 mins):Health News:Governor of the State of Yucatan presents the 17th Microcredit Summit 2Health News:Governor of the State of Yucatan presents the 17th Microcredit Summit 3Health News:There are many reasons why Americans' exercise levels have declined - Meet an executive that refuses to sit still with his TrekDesk Treadmill Desk even in a sedentary job 2Health News:UHY Study Shows Bank Lending In USA Falling Behind G7 Peers 2Health News:UHY Study Shows Bank Lending In USA Falling Behind G7 Peers 3Health News:UHY Study Shows Bank Lending In USA Falling Behind G7 Peers 4Health News:UHY Study Shows Bank Lending In USA Falling Behind G7 Peers 5Health News:UHY Study Shows Bank Lending In USA Falling Behind G7 Peers 6Health News:UHY Study Shows Bank Lending In USA Falling Behind G7 Peers 7Health News:Less Sleep in Teen Years Tied to More Pounds at 21 2Health News:Flapping baby birds give clues to origin of flight 2Health News:Flapping baby birds give clues to origin of flight 3
... ... set…GO! Summer kicks off each year with the City of Laguna ... year, the event is expected to bring out more than 6,000 runners, ... Day – Monday May 31. Registration is available online at www.lagunahillshalfmarathon.com ...
... , ... its place as one of the world,s leading medical hubs as it performs an ... and debilitating condition. , ... Singapore (PRWEB), May 6, 2010 -- Singapore,s oldest and largest tertiary acute hospital ...
... imaging (MRI) should be the imaging modality of choice for ... spread beyond the breast) as it is highly accurate and ... (shows no symptoms), according to a study to be presented ... Whole body MRI is a noninvasive medical test that ...
... Results from the SPIRIT IV clinical trial, which were ... scientific symposium, were published today in the New ... trial, a large-scale multi-center study of nearly 4,000 patients ... safety and efficacy in the treatment of de novo ...
... ... questions in the "By the Way, Doctor" feature. The newsletter,s May 2010 issue answers 13 ... Boston ... Letter offers answers to readers, serious, whimsical, and just plain curious questions ranging from ...
... discovered that the ovarian hormone progesterone plays a pivotal ... has important implications for breast cancer risk. ... (10.1038/nature09091; http://dx.doi.org/ ), are significant because reproductive history ... says principal investigator Rama Khokha, a molecular biologist at ...
Cached Medicine News:Health News:City of Laguna Hills Announces Memorial Day Half Marathon and 5K 2Health News:Singapore Performs Asia's First Combined Heart and Liver Transplant 2Health News:Singapore Performs Asia's First Combined Heart and Liver Transplant 3Health News:Singapore Performs Asia's First Combined Heart and Liver Transplant 4Health News:Singapore Performs Asia's First Combined Heart and Liver Transplant 5Health News:Whole body MRI is highly accurate in the early detection of breast cancer metastases 2Health News:Study finds everolimus-eluting stent safer, more effective than paclitaxel-eluting stent 2Health News:Harvard Health Letter Features Q&As from Harvard Doctors 2Health News:PMH cancer researchers link ovarian hormone to breast stem cells growth 2
(Date:8/28/2014)... The new report by ... applications, techniques, end users and Geography) Global Size, ... - 2020," indicates that the global DNA diagnostics ... a CAGR of 9.8% from 2014 to 2020. ... effectiveness over alternative diagnostic techniques are factors which ...
(Date:8/28/2014)... , Aug. 28, 2014   Venaxis, Inc. ... focused on obtaining FDA clearance for and commercializing its ... test for aiding in identifying children, adolescent, and young ... low risk for appendicitis, today announced it will present ... 16 th Annual Global Investment Conference being held ...
(Date:8/28/2014)... , Aug. 28, 2014 /PRNewswire/ ... market research report is available in ... to 2020 - Broadened Diagnostic Criteria ... Market Growth despite Patent Expirations ... ADHD Therapeutics to 2020 - ...
Breaking Medicine Technology:DNA Diagnostics Market is Expected to Reach $19 Billion by 2020 - Allied Market Research 2DNA Diagnostics Market is Expected to Reach $19 Billion by 2020 - Allied Market Research 3Venaxis to Present at September Investor Conferences 2Venaxis to Present at September Investor Conferences 3ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 2ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 3ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 4ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 5ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 6ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 7ADHD Therapeutics to 2020 - Broadened Diagnostic Criteria and Growing Adult Prevalence to Drive Market Growth despite Patent Expirations 8
... Encouraging 12-Month Outcomes from, Single- Center Study Involving ... 14 OrbusNeich today announced that an,interim analysis ... show good safety and efficacy in the real-world ... Presented by Professor Robbert de Winter, M.D., Ph.D., ...
... study Study needed ... Oct. 13 Advanced Circulatory Systems, Inc.,( http://www.advancedcirculatory.com ) ... in funding from the National Institutes of,Health (NIH) to ... on,those who experience cardiac arrest outside a hospital. Whatcom ...
Cached Medicine Technology:Interim Analysis of 12-Month Data from e-HEALING Registry Shows Good Safety and Efficacy in Real-World Use of OrbusNeich's Genous(TM) Bio-engineered R stent(TM) 2Interim Analysis of 12-Month Data from e-HEALING Registry Shows Good Safety and Efficacy in Real-World Use of OrbusNeich's Genous(TM) Bio-engineered R stent(TM) 3Whatcom County, Washington Participating in NIH Study of Cardiac Arrest Resuscitation Techniques 2
... Dehydroepiandrosterone sulfate (DHEA-S) is the sulfate ... and by enzymatic conversion of DHEA in ... major C19 steroid secreted by the adrenal ... and estrogen biosynthesis. DHEA possesses relatively weak ...
125I radioimmunoassay, Simple extraction procedure, Ready-to-use calibrators, Less than 0.1% crossreactivity with DHEA-SO4, 2-hour single incubation, 37C, Calibration Range: 0.5 30 ng/mL...
Inquire...
EL-RF/3 is for measurement of IgM, IgG, IgA RF with high specificity for rheumatoid arthritis....
Medicine Products: