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:8/11/2015)... August 11, 2015 Today, ZUK announced its ... as well as expected revenues in 2015 that relate to sales ... revenue guidance of approximately 2,200 MSEK for 2015. Jörgen ... prominent smartphone manufacturer in China ... selected FPC1 155 for Z1 ...
(Date:8/6/2015)... Germany , August 6, 2015 ... (SMI) shows the world,s first Eye Tracking ... Epson,s Moverio BT-200 see-through head mounted display and on ... unprecedented quality and efficiency is brought to personalized visualization ... the first time, professionals and researchers can integrate gaze, ...
(Date:8/5/2015)... , Aug. 5, 2015 The biosensors market ... in applications, penetration into newer sectors, and development of ... global biosensors space has seen the entry of multiple ... so far. (Photo - http://photos.prnewswire.com/prnh/20150805/255570 ) ... Analysis of the Global Biosensors Market ( ...
Breaking Biology News(10 mins):FPC's Touch Fingerprint Sensor FPC1155 in ZUK's Smartphone Z1 2SMI Shows First Eye Tracking Upgrade for Augmented Reality Glasses 2SMI Shows First Eye Tracking Upgrade for Augmented Reality Glasses 3Innovative Biosensors Incite Use in Non-Traditional Applications 2Innovative Biosensors Incite Use in Non-Traditional Applications 3Innovative Biosensors Incite Use in Non-Traditional Applications 4
(Date:8/31/2015)... , Aug. 31, 2015  For people with Down ... their day. The biotechnology company, located in the Science ... of the best potential therapies yet for people with Down ... " Correction of Down syndrome and Edwards syndrome aneuploidies ... DNA Research . Elixirgen plans to develop this ...
(Date:8/31/2015)... 31, 2015 FLX Bio, Inc., a biopharmaceutical ... cancer immunotherapies, announced today that it has appointed ... and William Ho , M.D., Ph.D., as Chief ... management team led by veterans of Flexus Biosciences, Inc., ... Scientific Officer; Jay Powers , Ph.D., Vice President, ...
(Date:8/31/2015)... ... August 31, 2015 , ... There’s a new treatment option for excessive menstrual ... available new FDA approved system in the last 14 years, and the only endometrial ... (zero bleeding) rate of 66%, the high Patient Satisfaction rate of 98%, and the ...
(Date:8/28/2015)... ... August 28, 2015 , ... ... presented two studies at the International Spine Intervention Society’ s 23rd ... through to August 1st, 2015. With a focus on evidence-based research and clinical ...
Breaking Biology Technology:New Down syndrome therapy discovered 2FLX Bio Announces Senior Management Hires and Initiation of Phase 1 Trial of FLX925 2FLX Bio Announces Senior Management Hires and Initiation of Phase 1 Trial of FLX925 3FLX Bio Announces Senior Management Hires and Initiation of Phase 1 Trial of FLX925 4U.S. FDA Approves Minerva Endometrial Ablation System 2U.S. FDA Approves Minerva Endometrial Ablation System 3Proove Biosciences Presents New Research Study at the International Spine Intervention Society’s Annual Scientific Meeting 2Proove Biosciences Presents New Research Study at the International Spine Intervention Society’s Annual Scientific Meeting 3Proove Biosciences Presents New Research Study at the International Spine Intervention Society’s Annual Scientific Meeting 4
Cached News: