HOME >> BIOLOGY >> NEWS
Closing in on lethal heart rhythm in young athletes

Johns Hopkins experts on the genetics of a potentially lethal heart rhythm defect that runs in families and targets young athletes report they have greatly narrowed the hunt for the specific genetic mutations that contribute to the problem.

Their new findings, described in the July issue of the American Journal of Human Genetics, should increase the accuracy of tests to identify those at risk for arrhythmogenic right ventricular dysplasia (ARVD), which is among the top causes of sudden cardiac death in the young and fit.

In February, the same team linked one-third of ARVD cases in their large database of patients to a dozen abnormal changes in a gene called plakophilin-2 (PKP2), which makes proteins involved in heart cell stickiness.

In the new study, confirming experiments elsewhere, the Hopkins team found four mutations in another sticky protein gene, Desmoglein-2 (DSG2), in five of 33 patients tested.

"This gene is highly expressed in the heart, where muscle tissue expands and contracts with the heartbeat," says senior study author and cardiac geneticist Daniel P. Judge, M.D. "Our results confirm that altered genes in the desmosomal cellular complex are responsible for ARVD. And now that we know the genetic roots of this disease, we can also create better blood tests for their proteins to predict who is at risk for developing this condition."

ARVD is characterized by weakness in the desmosome, or cell-to-cell binding structure. The inherited condition leads to the buildup of excess fatty and scar tissue in the heart's right ventricle, causing irregular beats and - unless diagnosed and treated with drugs or implanted defibrillators - triggering a fatal heart rhythm disturbance.

Judge, an assistant professor at The Johns Hopkins University School of Medicine and its Heart Institute, says DSG2 mutations appear to account for at least 10 percent and possibly more of the estimated 25,000 deaths e
'"/>

Contact: David March
dmarch1@jhmi.edu
410-955-1534
Johns Hopkins Medical Institutions
7-Sep-2006


Page: 1 2 3

Related biology news :

1. Genes activity points to more lethal subtype of AML
2. Tracing Parkinsons lethal mechanism
3. Anthrax paralyzes immune cells with lethal toxin, UF research shows
4. Peramivir protects mice from lethal H5N1 infection
5. Drug blocks lethal motor-neuron disease in mice
6. Study uncovers a lethal secret of 1918 influenza virus
7. Patent awarded for LSUHSC-developed peptide that blocks lethal toxins of anthrax
8. Jefferson scientists uncover lethal gene mutation key to blocking cholesterol processing
9. Gene mutation causes lethally low-fat diet
10. Genetic network guards against lethal DNA damage
11. Gene-specific Ebola therapies protect non-human primates from lethal disease

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Closing lethal heart rhythm young athletes

(Date:10/16/2014)... Virginia Institute of Marine Science have received a ... to identify the streams and wetlands most vulnerable ... help local governments and citizens conserve these important ... dataset of tidal-marsh observations first gathered by VIMS ... baseline can today,s researchers accurately map the slow ...
(Date:10/16/2014)... have challenged conventional thinking on how the bowel lining ... for how bowel cancer starts. , The researchers produced ... regenerating the ,crypts, that are a feature of the ... in bowel cancer development, a controversial finding as scientists ... Using 3D imaging technologies, Dr Chin Wee Tan and ...
(Date:10/16/2014)... Virus causes severe respiratory tract infections and worldwide ... Scientists at VIB and Ghent University have succeeded ... this common virus infection. , Xavier Saelens ... paves the way for the development of a ... that causes suffering in numerous small children and ...
Breaking Biology News(10 mins):EPA grant will help localities conserve headwater wetlands 2EPA grant will help localities conserve headwater wetlands 3Cryptic clues drive new theory of bowel cancer development 2New perspectives for development of an RSV vaccine 2
(Date:10/22/2014)... Md. (PRWEB) October 21, 2014 Shimadzu ... an LC/MS/MS data tool for the pain management and ... of data processing and review by allowing users to ... to clinicians. , QuantAnalytics allows analysts to filter ... This expedites data processing by eliminating the need to ...
(Date:10/22/2014)... Currently offering a comprehensive portfolio ... Weighing, Rice Lake, and Ohaus, Pipette.com has added ... Sartorius CPA Semi-Micro Balance is ideal for lab ... user-friendly laboratory balance. , Sartorius is a global ... balances are well known for their high performance, ...
(Date:10/22/2014)... According to new market research report "Cloud ... Deployment & Support), by Service Model (SaaS, PaaS, ... (Hybrid & Community)) - Global Forecast to 2019", ... Professional Services Market into various sub-segments with an ... identifies the drivers and restraints for this market ...
(Date:10/22/2014)... YORK , Oct. 22, 2014 Nuvilex, ... Federation, approximately 400 million people worldwide are living with ... million people by 2030.  The global market for diabetes ... 2012 approximately 330,000 people worldwide died from pancreatic cancer.  ... death due to cancer in the United ...
Breaking Biology Technology:Shimadzu Releases QuantAnalytics Open Access LCMS Software Package for Clinical Applications 2Pipette.com Launches the Addition of Sartorius CPA Semi-Micro Balance to Their Product Portfolio with Special Promotional Pricing 2Pipette.com Launches the Addition of Sartorius CPA Semi-Micro Balance to Their Product Portfolio with Special Promotional Pricing 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 2Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 3Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 4Cloud Professional Services Market by Public, Private, Hybrid & Community Expected to Reach $34.41 Billion by 2019 - New Report by MarketsandMarkets 5Nuvilex Brief Analyst Report: Thinking Outside the Box by BrokerBank Securities, Inc. 2
Cached News: