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
Johns Hopkins Medical Institutions

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:
TAG: Closing lethal heart rhythm young athletes

(Date:9/10/2015)... , Sept. 10, 2015  NXT-ID, Inc. (NASDAQ: ... company focused on the growing mobile commerce market, announces ... ecommerce site, Touch of Modern, will feature the Wocket® ... 16 th . Touch Of ... of designer lifestyle products to its 7.2 million members. ...
(Date:9/8/2015)... --  TREW Marketing and ENGINEERING.com today ... for Engineers TM : Content and Online Marketing . ... about engineers, preferences for online content marketing and channels ... and trust, and where they look for that content ... with how to best implement online and content marketing ...
(Date:9/2/2015)... 2015 About hand geometry biometrics Security ... organizations, telecommunication and hospitals as well as for individuals ... numeric keypads are used to prevent unauthorised access. Hand ... fingers of an individual, width of the fingers, and ... light and reflectors can be used for capturing the ...
Breaking Biology News(10 mins):NXT-ID's Wocket Smart Wallet to be Offered by Touch Of Modern 2NXT-ID's Wocket Smart Wallet to be Offered by Touch Of Modern 3ENGINEERING.com and TREW Marketing Release New Research on Engineers' Online Behavior 2ENGINEERING.com and TREW Marketing Release New Research on Engineers' Online Behavior 3Global Hand Geometry Biometrics Market 2015-2019 2Global Hand Geometry Biometrics Market 2015-2019 3
(Date:10/7/2015)...   VWR (NASDAQ: VWR ), ... services and solutions, announced today that it has ... company that performs high volume purification of selected ... growing laboratory and production chemical manufacturing portfolio to ... Manuel Brocke-Benz , President and CEO ...
(Date:10/7/2015)... ... October 07, 2015 , ... Tunnell Consulting , ... in the Operational and Process Improvement practice. He brings to his role more ... , “I am delighted that Dr. Matzmorr is joining our team,” said Dr. Philippe ...
(Date:10/6/2015)... , Oct. 6, 2015  Pacific Biosciences of ... closed at $6.15 yesterday, up .33%. Trading volume was higher ... $3.66 on September 30th and made the 68% jump on ... , Inc. the information they need about new technological ... the link below. --> California , ...
(Date:10/6/2015)... , Oct. 6, 2015   AgeneBio ... unserved patients battling neurodegeneration, announced today that the ... Forum . The conference will be held October ... Francisco. CEO Jerry McLaughlin will present ... time. AgeneBio, Inc., is a development-stage ...
Breaking Biology Technology:VWR Acquires Purification Technologies 2VWR Acquires Purification Technologies 3VWR Acquires Purification Technologies 4VWR Acquires Purification Technologies 5Dr. Walter Matzmorr Joins Tunnell Consulting 2SHAREHOLDER UPDATE: BrokerBank Securities Provides Due Diligence Report 2SHAREHOLDER UPDATE: BrokerBank Securities Provides Due Diligence Report 3SHAREHOLDER UPDATE: BrokerBank Securities Provides Due Diligence Report 4SHAREHOLDER UPDATE: BrokerBank Securities Provides Due Diligence Report 5AgeneBio to Present at BIO Investor Forum 2015 2AgeneBio to Present at BIO Investor Forum 2015 3
Cached News: