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:7/23/2014)... around the world have no access to clean drinking ... million people die from water-related diseases every year. ETH ... a contribution to solving this problem. Working with researchers ... the Functional Materials Laboratory, the 23-year-old spent a year ... "What makes our DrinkPure filter unique is that you ...
(Date:7/23/2014)... Non-biting blow fly Chrysomya megacephala is commonly ... investigations to determine the time of death, referred to ... derived form of C. megacephala from Tamil ... morphological features and molecular characterization through generation of DNA ... in the open access Biodiversity Data Journal . ...
(Date:7/23/2014)... with ever-growing piles of electronic waste (or "e-waste"), scientists ... there is and where it really ends up. Published ... , their study found that nearly a quarter of ... developing countries with major potential health risks for ... colleagues note that the export from developed to developing ...
Breaking Biology News(10 mins):ETH student develops filter for clean water around the world 2Dead body feeding larvae useful in forensic investigations 2
(Date:7/23/2014)... July 23, 2014 regulated information -- UCB today ... development pipeline with positive topline results from the ... study was designed to evaluate the efficacy and ... mg/day, without titration) compared to placebo, as adjunctive ... seizures, not fully controlled despite treatment with one ...
(Date:7/23/2014)... -- China Cord Blood Corporation (NYSE: CO ) ("CCBC" ... cord blood collection, laboratory testing, hematopoietic stem cell processing, and stem ... company catering to the mother and child segment, today announced that ... PRC, Singapore , Hong Kong ... the Philippines and Malaysia ...
(Date:7/23/2014)... Adult stem cells that are ... but not magical. However, many current regenerative ... as if they were magical. , Many current ... constitute “stem cell tourism,” are evaluating heterologous tissue ... new regenerative medicine therapies. In reality, these are ...
(Date:7/22/2014)... D.C., June 22, 2014 Even within a phylum so ... is distinguished among other arthropods for its cruelty -- at ... Central America, the fly is a most predatory sort of ... cricket, deposits a smear of larvae, and leaves its wicked ... out. , None of this would be possible without ...
Breaking Biology Technology:Major advance in UCB pipeline: positive topline Phase 3 results for brivaracetam in epilepsy patients with partial-onset seizures 2Major advance in UCB pipeline: positive topline Phase 3 results for brivaracetam in epilepsy patients with partial-onset seizures 3Major advance in UCB pipeline: positive topline Phase 3 results for brivaracetam in epilepsy patients with partial-onset seizures 4Major advance in UCB pipeline: positive topline Phase 3 results for brivaracetam in epilepsy patients with partial-onset seizures 5Major advance in UCB pipeline: positive topline Phase 3 results for brivaracetam in epilepsy patients with partial-onset seizures 6Major advance in UCB pipeline: positive topline Phase 3 results for brivaracetam in epilepsy patients with partial-onset seizures 7China Cord Blood Corporation and Cordlife Group Limited Announce Collaboration to Aid Asia-based Patients with Cord Blood Stem Cell Therapy 2China Cord Blood Corporation and Cordlife Group Limited Announce Collaboration to Aid Asia-based Patients with Cord Blood Stem Cell Therapy 3China Cord Blood Corporation and Cordlife Group Limited Announce Collaboration to Aid Asia-based Patients with Cord Blood Stem Cell Therapy 4The Adult Stem Cell Technology Center, LLC Continues to Develop Technologies for Homologous Adult Stem Cell Therapies and Drug Development 2The Adult Stem Cell Technology Center, LLC Continues to Develop Technologies for Homologous Adult Stem Cell Therapies and Drug Development 3The Adult Stem Cell Technology Center, LLC Continues to Develop Technologies for Homologous Adult Stem Cell Therapies and Drug Development 4The Adult Stem Cell Technology Center, LLC Continues to Develop Technologies for Homologous Adult Stem Cell Therapies and Drug Development 5Fly-inspired sound detector 2Fly-inspired sound detector 3Fly-inspired sound detector 4
Cached News: