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 Serviceā„¢
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:7/2/2015)...  Spherix Incorporated (Nasdaq: SPEX ) -- an intellectual property ... intellectual property, today announced a litigation update. ... Services Corp. et al. , Case No. 1:14-cv-00721-GBL-TCB, in ... of Virginia , the Court issued ... key claims in favor of the Defendants on the ...
(Date:7/1/2015)... and PARIS , July ... and Genective, key developer of biotech crops, today ... of new generations of insect control traits. ... to counter the realities of advancing insect resistance. ... AgBiome,s unique insect control technology with Genective,s capability ...
(Date:7/1/2015)... 2015  Axovant Sciences Ltd. (NYSE:  AXON), a ... of dementia, today announced that the company will ... 5:45 p.m. EDT following its presentation of RVT-101 ... 2015 (AAIC). The event will ... Lawrence Friedhoff , Chief Development Officer, will ...
(Date:7/1/2015)... ... July 01, 2015 , ... NEMA 4 (IP66) Medical ... new Medical Joysticks have an impermeable molecular barrier protection against bio-hazardous agents. ... that will increase healthcare worker safety and reduce financial costs. , CTI Electronics ...
Breaking Biology Technology:Spherix Issues A Litigation Update 2Spherix Issues A Litigation Update 3AgBiome and Genective collaborate to create novel insect-resistant crops 2Axovant Sciences To Host Investor Briefing And Live Webcast During AAIC 2015 Meeting 2Axovant Sciences To Host Investor Briefing And Live Webcast During AAIC 2015 Meeting 3Sanitized Medical Joysticks for a Safer and Healthier Work Environment 2
... , To participate in several renowned trade shows ... auto components, home decor and engineering, medical & industrial sectors ... these global platforms ,Apart from buoyant domestic ... Indian Small and Medium Enterprises (SMEs). Well aware of this ...
... Infrared Systems International (OTCBB: IFRS) announces the completion ... continued success. Most recently, the company completed ... Infrared Applications, Inc. (IAI).  The distribution marks the next ... engaged in the aerospace industry to one focused on ...
... 2011 NeoStem, Inc. (NYSE Amex: NBS ) ... focus on cell-based therapeutic development, today announced that the Company ... Wednesday evening, August 24, 2011. The segment focused ... adult stem cells for first responders, the nuclear industry, the ...
Cached Biology Technology:IndiaMART.com to Step Up B2B Matchmaking at Global Trade Events 2IndiaMART.com to Step Up B2B Matchmaking at Global Trade Events 3Infrared Systems International Reflects on Past and Looks Forward to the Future 2Infrared Systems International Reflects on Past and Looks Forward to the Future 3Stem Cell Treatments for First Responders in the News 2Stem Cell Treatments for First Responders in the News 3Stem Cell Treatments for First Responders in the News 4Stem Cell Treatments for First Responders in the News 5
(Date:6/24/2015)... , June 24, 2015 Biometry ... with emerging biometric password solution one face in. ... one face in, entering the ... ground-breaking and affordable multifactor-authentication biometric answer to the ... technology, provided in partnership with KeyLemon, one face ...
(Date:6/23/2015)... , June 23, 2015  Crossmatch™, ... and authentication solutions, today announced enhanced functionality of ... authentication solution.  The enhancements build on the ... the DigitalPersona Altus platform and provide expanded ... In today,s environment of increasing ...
(Date:6/17/2015)... , and HILDEN, Germany , June ... QGEN ; Frankfurt Prime Standard: QIA) today launched new Investigator ... in forensic laboratories in the United States ... to simultaneously analyze multiple key genomic markers (short tandem repeats ... Quality Sensor to evaluate the quality of DNA in ...
Breaking Biology News(10 mins):KeyLemon Announces Partnership With Biometric Password Solution onefacein 2Crossmatch Releases Enhanced DigitalPersona Altus Advanced Authentication Functionality 2QIAGEN Launches New Genetic Fingerprinting Kits for U.S. Forensic Labs 2QIAGEN Launches New Genetic Fingerprinting Kits for U.S. Forensic Labs 3QIAGEN Launches New Genetic Fingerprinting Kits for U.S. Forensic Labs 4QIAGEN Launches New Genetic Fingerprinting Kits for U.S. Forensic Labs 5
... in biomedical imaging, and in particular his pioneering work ... the foundation for applications of this technique in medicine ... image contrast with lower doses of radiation. His research ... investigations to applications in medical imaging and diagnosis; it ...
... jetliner act and feel one way when crammed together like ... mindset when the middle seat is empty and they have ... exists among the proteins involved in health and disease inside ... Chemical & Engineering News (C&EN), ACS, weekly newsmagazine, focuses on ...
... The Entomological Society of America (ESA) has just released ... of Integrated Pest Management ( JIPM ), which ... an online-only, open-access, peer-reviewed extension journal that covers the ... the journal is any professional who is engaged in ...
Cached Biology News:Physicist Franz Pfeiffer receives 2011 Leibniz Prize 2Journal of Integrated Pest Management is now online 2
... 1 kit. Facilitates the simple, phenol-free extraction ... hard tissue requiring proteinase K digestion.Each kit ... from 50 preparations of up to 25 ... & Purification, Purification and Amplification of Genomic ...
Request Info...
Ultra-sensitive, non-radioactive measurement of COX-I and COX-II activity...
Recombinant Ovine (Sheep) Growth Hormone, Ultra Pure...
Biology Products: