Navigation Links
Genetic analyses reveal novel mutations as causes of startle disease
Date:8/7/2012

glycine uptake by GlyT2.

"Our study represents the largest multicenter screening study for GlyT2 mutations in hyperekplexia to date," the authors wrote in their paper. They went on to say the work triples the number of known cases with these mutations, "firmly establishing mutations in the GlyT2 gene as a second major cause of startle disease."

In the other JBC paper, Beatriz Lpez-Corcuera at the Universidad Autnoma de Madrid in collaboration with Cecilio Gimnez and Pablo Lapunzinas groups at the IdiPAZ-Hospital Universitario La Paz and colleagues report another novel genetic mutation in GlyT2 as the cause of startle disease in eight patients from Spain and the United Kingdom.

Lpez-Corcuera said: "The mutation that we discovered is the first common dominant mutation in the GlyT2 gene," meaning that inheritance of a single defective copy of the gene causes disease.

The team found that the mutation hindered proper expression of the GlyT2 transporter at the cell membrane and changed how GlyT2 itself functions.

Lpez-Corcuera explains that this GlyT2 mutation reduces glycine uptake, which decreases the amount of glycine subsequently released and ultimately hinders transmission of the inhibitory signal. Lpez-Corcuera suggests that these results may explain the symptoms observed in the patients and "could be useful for future pharmacological approaches."

From the articles:

"A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2" by Cecilio Gimnez, Gonzalo Prez-Siles, Jaime Martnez- Villarreal, Esther Arribas-Gonzlez, Esperanza Jimnez, Enrique Nez, Jaime de Juan-Sanz, Enrique Fernndez-Snchez, Noem Garca-Tardn, Ignacio Ibez, Valeria Romanelli, Julin Nevado, Victoria M James, Maya Topf, Seo-Kyung Chung, Rhys H Thomas, Lourdes R Desviat, Carmen Aragn, Francisco Zafra, Mark I Rees, Pablo Lapunzina, Robert J Harvey, and Beatr
'/>"/>

Contact: Angela Hopp
ahopp@asbmb.org
240-283-6614
American Society for Biochemistry and Molecular Biology
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
2. 2 genetic deletions in human genome linked to the development of aggressive prostate cancer
3. Head, Body Lice Are Genetically Very Similar
4. Certain Genetic Regions May Be Tied to Osteoporosis
5. Study of half siblings provides genetic clues to autism
6. Genetic variants, tobacco exposure and lung cancer risk
7. Research Gets Closer to Genetic Roots of Glaucoma
8. Moffitt researcher awarded GE grant to develop tool to detect breast cancer metastasis genetic risks
9. Genetically modified T cell therapy shown to be safe, lasting in decade-long study of HIV patients
10. Some women may be genetically predisposed to smoking-related hot flashes
11. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/29/2014)... (PRWEB) August 29, 2014 The Florida ... the Hyatt Regency Orlando last week August 21-24 and ... returned as a presenter. , Dr. Greenstein ... the 21st Century was a standing room session; (2) ... – Doctors of Chiropractic Leading the Way in Injury ...
(Date:8/29/2014)... August 29, 2014 Canadian Healthy ... Canada, recently completed its annual survey of its 200 ... emerged of the products that appeal to Canadian consumer ... asked to list their top five selling healthy snacks ... is an increasingly important issue for consumers, employers, and ...
(Date:8/29/2014)... 2014 The Department of Health ... (FDA), Center for Food Safety and Applied Nutrition ... quantity (IDIQ) contract and the first two task ... Modernization and Enhancement (DME) for FARM VI” to ... Overarching contract objectives include:, ,     Upgrade ...
(Date:8/29/2014)... 2014 Under Section 946.300, Qualifications for ... “The physician shall not…advertise in a cultivation center or ... What the state of Illinois has done is create ... potential patients entering their care. The goal is to ... pharmacies and with typical prescription medications. Medical steering is ...
(Date:8/28/2014)... August 29, 2014 Career Step, an ... released a new video designed to help students and ... coding and billing field. The video details what medical ... for these professionals, and the education requirements for entering ... option that’s often overlooked when people are considering a ...
Breaking Medicine News(10 mins):Health News:Sport and Spine Rehab’s CEO Presents at the Florida Chiropractic Association National Convention and Expo 2014 2Health News:Survey Results: What Products Do Canadians Want in Their Healthy Vending Machines? 2Health News:Survey Results: What Products Do Canadians Want in Their Healthy Vending Machines? 3Health News:Team VersaTech and CRGT Win HHS FDA Contract to Support Food Applications Regulatory Management (FARM) System Upgrade 2Health News:Team VersaTech and CRGT Win HHS FDA Contract to Support Food Applications Regulatory Management (FARM) System Upgrade 3Health News:Medical Marijuana Company Provides Solution for Illinois Marketing Regulations 2Health News:Career Step Releases New Video Designed to Help Students Explore the Medical Coding and Billing Field 2
... ... Consumer Confidence That Will Come With These Long Awaited Manufacturing Regulations, , ... (PRWEB) June ... heralds the Food and Drug Administration,s (FDA) final step in enforcing its current ...
... ... targets an audience of teens and young adults in an effort to empower parents to ... , ... -- Kids Into Safe Skin (K.I.S.S) announced today the official launch of its not-for-profit organization, ...
... men can recall familiar faces faster and more accurately ... both sides of their brains, according to a new ... in the journal, Laterality: Asymmetries of Body, Brain ... orientation and whether we,re right-or-left-handed on our ability to ...
... UK,s National Physical Laboratory (NPL) is involved in a collaborative ... viral protein structure which could lead to new molecular medicines. ... from NPL, the University of Edinburgh and IBM T.J. Watson ... of Physical Chemistry B . The article sets out ...
... More ... ... EBSCO Publishing (EBSCO) began providing key database content free of charge in 2008 ... routines. Two free EBSCOhost® resources, GreenFILE™ , and Library, Information Science & ...
... cesareans due to ,failed inductions, researchers find , TUESDAY, ... doubles the risk of having a cesarean delivery, according ... to a link that experts have long suspected. , ... study author Dr. Deborah Ehrenthal, director of women,s health ...
Cached Medicine News:Health News:Small Supplement And Vitamin Manufacturers Must Meet FDA cGMP Requirements By The End Of The Month 2Health News:Small Supplement And Vitamin Manufacturers Must Meet FDA cGMP Requirements By The End Of The Month 3Health News:Small Supplement And Vitamin Manufacturers Must Meet FDA cGMP Requirements By The End Of The Month 4Health News:Kids Into Safe Skin (K.I.S.S) Officially Launches Today with a Mission to Create Awareness About Skin Cancer Detection and Prevention 2Health News:Kids Into Safe Skin (K.I.S.S) Officially Launches Today with a Mission to Create Awareness About Skin Cancer Detection and Prevention 3Health News:Kids Into Safe Skin (K.I.S.S) Officially Launches Today with a Mission to Create Awareness About Skin Cancer Detection and Prevention 4Health News:Gay men's bilateral brains better at remembering faces: York U study 2Health News:Viral protein structure study offers HIV therapy hope 2Health News:Free Resources from EBSCO Publishing Providing Useful Information to Researchers 2Health News:Free Resources from EBSCO Publishing Providing Useful Information to Researchers 3Health News:Free Resources from EBSCO Publishing Providing Useful Information to Researchers 4Health News:Labor Induction May Boost C-Section Risk 2Health News:Labor Induction May Boost C-Section Risk 3
(Date:8/28/2014)... MONICA, Calif. , Aug. 28, 2014  In anticipation ... new infographic is being made available for the first time. ... San Diego offers a snapshot of ... industry. Highlighting everything from the latest employment statistics ... has made San Diego such a ...
(Date:8/28/2014)... Levi & Korsinsky announces that a class ... District Court for the District of Nevada ... Therapeutics Inc. ("Galectin" or the "Company") (NasdaqCM: GALT) securities ... For more information, click here: http://zlk.9nl.com/galectin-therapeutics-galt . ... Period the Company violated federal securities laws by issuing ...
(Date:8/28/2014)... N.C. , Aug. 28, 2014   ... marketplace, today announced a worldwide search for product ... the senior population.  Promising ideas uncovered through the ... to leading medical device manufacturers and healthcare retailers ... improve the lives of individuals age 65 and ...
Breaking Medicine Technology:New Infographic Published - Overview of Medtech & Life Sciences Industry in San Diego 2SHAREHOLDER ALERT: Levi & Korsinsky, LLP Reminds Investors of Class Action Against Galectin Therapeutics Inc. and Its Board of Directors and a Lead Plaintiff Deadline of September 29, 2014 -- GALT 2Edison Nation Medical Launches Open Innovation Search to Uncover Innovative Senior Care Products 2Edison Nation Medical Launches Open Innovation Search to Uncover Innovative Senior Care Products 3
... PARIS--(BUSINESS WIRE)--Jun 11, 2007 - Regulatory News-Ipsen,(Paris:IPN) announced ... III study for its investigational 4-month formulation,of triptorelin ... triptorelin for a duration of 4 months in ... the second,administration as planned in the protocol. No ...
... 11, 2007 /PRNewswire/ -- NovaCardia, Inc.,today presented preliminary ... an adenosine A1 receptor antagonist in development for ... (CHF),that indicate a strong trend toward efficacy for ... a higher rate of,improvement in dyspnea, or shortness ...
Cached Medicine Technology:Phase III Clinical Trial with 4-Month Long-Acting Formulation of,Triptorelin: Ipsen Decides Not to Perform Further Administration 2Phase III Clinical Trial with 4-Month Long-Acting Formulation of,Triptorelin: Ipsen Decides Not to Perform Further Administration 3Pilot Phase 3 Results of NovaCardia's KW-3902 for Acute Congestive,Heart Failure Presented at Late-Breaking Session of Heart Failure,Congress 2007 2Pilot Phase 3 Results of NovaCardia's KW-3902 for Acute Congestive,Heart Failure Presented at Late-Breaking Session of Heart Failure,Congress 2007 3Pilot Phase 3 Results of NovaCardia's KW-3902 for Acute Congestive,Heart Failure Presented at Late-Breaking Session of Heart Failure,Congress 2007 4
... with concave seats and large backrests ... like seats, backrests, armrests, and casters ... Series for top performance in a ... laboratory, clean room, static control, health ...
... Durable ergonomic chairs with concave seats ... • Select options like seats, backrests, ... Choose the BE Series for top ... including: industry, education, laboratory, clean room, ...
... concave seats and large backrests with ... seats, backrests, armrests, and casters and ... for top performance in a variety ... clean room, static control, health care ...
... Durable ergonomic chairs with concave seats ... • Select options like seats, backrests, ... Choose the BE Series for top ... including: industry, education, laboratory, clean room, ...
Medicine Products: