Navigation Links
Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope
Date:5/10/2013

er Institute and co-senior study author. "While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist. The advancements in whole genome sequencing and the development of next-generation sequencing tools finally allowed my lab to test and prove the hypothesis."

Dr. Pevsner's laboratory found the somatic mutation (a change in DNA that occurs after conception and affects only part of the body) that causes SWS and port-wine birthmarks by performing whole genome sequencing on affected and unaffected tissue and blood samples from three individuals with SWS. They were able to identify one somatic mutation shared by all three affected samples a nucleotide transition in gene GNAQ on chromosome 9q21. In a separate analysis, the researchers confirmed the finding by detecting the mutation in 23 out of 26 tissue samples from subjects with SWS and 12 out of 13 samples from subjects with isolated port-wine birthmarks. The control samples, and most of the unaffected samples, did not possess the mutation. These analyses also revealed the surprising outcome that the gene involved in SWS is the same gene implicated in uveal melanoma, a type of melanoma that occurs in the eye.

Collaborating with Kennedy Krieger scientists was Douglas Marchuk, Ph.D., and his team at Duke University Medical Center, who further illuminated GNAQ's role in SWS. Within the body, GNAQ encodes a set of membrane proteins that ensure a set of signaling pathways within the cell are working correctly. However, in both SWS and port-wine stains, a mutation occurs in GNAQ that causes those sets of pathways to increase their activity, ultimately resulting in both conditions.

With the discovery of the gene and pathway involved in SWS and port-wine stains, researchers can now begin investigating drugs that selectively inhibit the implicated pathways. The link to melanoma may also influence research and lead to new directions for
'/>"/>

Contact: Megan Lustig
mlustig@spectrumscience.com
202-955-6222
Kennedy Krieger Institute
Source:Eurekalert

Page: 1 2 3

Related biology technology :

1. Discovery Labs Prices $14.25 Million Public Offering of Common Stock
2. Adaptive Biotechnologies Signs Biomarker Discovery Collaboration Agreement with Bristol-Myers Squibb
3. Predictive Biomarker Discovery for Oncology Small-Molecules and Biologics - a Webinar Hosted by Xtalks
4. Partnership between EBSCO Publishing and BioOne Online Journals Adds Scholarly Biological, Ecological and Environment Sciences Articles to EBSCO Discovery Service™
5. Discovery of Circulating Protein Biomarkers by Analysis of the Tissue Secretome, New Life Science Webinar Hosted by Xtalks
6. Averica Discovery Services and Worcester Polytechnic Institute Establish Research Collaboration
7. Heptares Achieves All Research Milestones and Receives Milestone Payment From GPCR Drug Discovery Agreement With Takeda
8. UNL teams discovery yields supertough, strong nanofibers
9. Discovery paves the way for ultra fast high resolution imaging in real time
10. Probiotic Action Announces the Discovery of Four New Foods Claiming to Have Probiotic Benefits
11. ChanTest Announces Their Second User Meeting: Partnerships in Drug Discovery
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/25/2014)... The Workgroup for Electronic Data ... on the use of health IT to create ... of four new co-chairs to the organization’s Security ... ,     Peter Dumont, Senior Director – Privacy ... Deloitte Consulting LLP ,     Deidre Rodriguez, Director ...
(Date:10/25/2014)... 2014 Berkshire Corporation, the world ... announce the release of the ValuSeal® IonX™ cleanroom ... contamination containment in critical processing applications. , Recommended ... cleanroom environments, ValuSeal® IonX™ is a laser sealed ... that continues Berkshire’s innovative focus on meeting new ...
(Date:10/25/2014)... 2014 Research and Markets has ... Product , Research Area & by End User - ... In this report, the global epigenetics ... areas, and end users. The product segments of the ... & consumables, kits, and reagents. The subsegments of the ...
(Date:10/22/2014)... October 21, 2014 The Americas ... inorganic refrigerants market in Americas with analysis and ... of the Americas Inorganic Refrigerants Market report, to ... This also provides a glimpse of the segmentation ... supported by various tables and figures. , ...
Breaking Biology Technology:WEDI Appoints Four New Security and Privacy Workgroup Co-chairs 2Ions Are Bygones, Berkshire Announces the Release of New Innovative Cleanroom Wipers 2Global Epigenetics (VLA, WBA, NBA, RTA, Rotary-Wing Aircraft) Market - Forecast to 2019 2Global Epigenetics (VLA, WBA, NBA, RTA, Rotary-Wing Aircraft) Market - Forecast to 2019 3The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 2The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 3
... CUPERTINO, Calif., Jan. 31 In conjunction,with DURECT Corporation,s (Nasdaq: ... to listen to the conference call,that will be broadcast live over ... a.m. PST)., When: Wednesday, February 6, 2008 ... over the Internet -- Simply log on to http://www.durect.com, ...
... Jan. 31 American Oriental,Bioengineering Inc. (NYSE: ... pharmaceutical and nutraceutical products, today announced that,the company ... Medical Device Conference at the Grand Hyatt Hotel ... with institutional,investors and to present at 2:20 pm ...
... Chindex International,Inc. (Nasdaq: CHDX ) a leading ... in the People,s Republic of China,announced that it ... third,quarter ended December 31, 2007, on Friday, February ... a conference call on Friday,February 8, 2008 at ...
Cached Biology Technology:Chindex International Announces Conference Call to Discuss Its Fiscal 2008 Third Quarter Results on Friday, February 8, 2008 2Chindex International Announces Conference Call to Discuss Its Fiscal 2008 Third Quarter Results on Friday, February 8, 2008 3
(Date:10/25/2014)... Oct. 23, 2014 Research and Markets ... in Europe 2014-2018" report to their offering. ... assess individuals on the basis of their physical or ... both physiological traits such as fingerprints, face recognition, DNA, ... traits such as keystroke patterns and speech pattern/voice recognition. ...
(Date:10/19/2014)... India over the last 30 years contributed only ... during that time, according to a new study ... ., "Energy access is fundamental to development: it ... education, communication, and health," says IIASA researcher Shonali ... energy access is widely agreed to be an ...
(Date:10/17/2014)... German . ... in order to reproduce? And why are there two sexes ... latest issue of the research journal Molecular Human Reproduction ... Ramm from Bielefeld University Bielefeld has compiled this special issue ... a female to copulate with several males in quick succession ...
Breaking Biology News(10 mins):Biometrics Market in Europe 2014-2018: Key Vendors are 3M Cogent, Cognitec, NEC and Safran 2Biometrics Market in Europe 2014-2018: Key Vendors are 3M Cogent, Cognitec, NEC and Safran 3Improved electricity access has little impact on climate change 2Sperm wars 2
... Toshisada Nishida is this year,s winner of the International ... research and contributions to primatology. The award was presented ... Scotland, on 7 August 2008. Nishida will also be ... ape and human evolution by the Leakey Foundation. He ...
... In a study on fetal alcohol syndrome, researchers were ... cells in a key area of the fetal brain ... acidic environment that alcohol produces. The cerebellum, the portion ... muscle coordination, is particularly vulnerable to injury from alcohol ...
... N.J., July 28 Ikaria Holdings, Inc., a ... the,U.S. Food and Drug Administration (FDA) has granted ... in the reduction of the incidence and,severity of ... organ,transplantation., Ralf Rosskamp, M.D., Executive Vice President ...
Cached Biology News:Springer editor Toshisada Nishida winner of 2 prestigious primatology awards 2Researchers block damage to fetal brain following maternal alcohol consumption 2Ikaria(R) Receives FDA Orphan Drug Designation for Inhaled Carbon Monoxide for Delayed Graft Function in Solid Organ Transplants 2
...
... This modular benchtop fume hood ... allowing safe indoor release of ... most organic contaminants. Configurations are ... flow; options include final HEPA ...
...
... The Staccato Series of systems provide ... drug discovery , genomics, proteomics and drug ... three base configurations; Mini Workstation Series, Application ... Sciclone ELISA Station is a remarkably compact ...
Biology Products: