Navigation Links
Researchers identify the genotype of disorders causing cardiac sudden death syndrome
Date:2/9/2011

This release is available in Spanish.

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

Long Qt syndrome is a disorder of cardiac ionic channels that approximately affects one in every 2,500 people and may cause torsade de pointes episodes, which can trigger sudden death. This condition usually affects children and adolescents, and it is occasionally mistaken for convulsions, leading to a misdiagnosis of epilepsy.

So far, hundreds of mutations have been found in twelve genes of sodium and potassium channels. Thus, approximately 75% of the mutations in cases of LQTS are located in three genes: KCNQ1, the most frequent in other sectors of the population (potassium channel), KCNH2 (potassium channel) and SCN5A (sodium channel).

To carry out this study, researchers selected nine patients who met the diagnostic criteria for long QT syndrome, and four patients with ventricular fibrillation (cardiac arrest produced in the absence of any identifiable causes). These patients and their first-degree relatives were examined in the Arrhythmia Assessment Unit of the Hospital Virgen de las Nieves in Granada, Spain.

Genetic Study

Mutations were found in seven patients with long QT syndrome and in two patients with idiopathic ventricular fibrillation. Overall, 71.4% of mutations were in the gene KCNH2 and 28.6% were in SCN5A. No mutations were found in the gene KCNQ1. Only two mutations had been previously observed.

In fact, one of these mutations was studied in vitro, and their involvement in the etiology of the disease was definitely proved, which is a major contribution to this field of research (see picture). This test was conducted with the collaboration of the Department of Pharmacology of the Universidad Complutense of Madrid.

Of the 19 relatives studied, six were carriers of the mutation. Unlike previous studies, the study conducted in Granada proved that genetic testing had a high level of sensitivity for the diagnosis of patients with long QT syndrome, and that the most frequently mutated gene was KCNQ1. These results differ from the results obtained in studies with other populations, where the most frequently mutated gene was KCNQ1.

This study -published in the Revista Espaola de Cardiologa- was conducted by Juan Jimnez Jimez, Luis Tercedor Snchez, Miguel lvarez Lpez, Ricardo Sebastin Galdeano (Hospital Virgen de las Nieves), Esther Martnez Espn and Jos Antonio Lorente Acosta (Department of Legal Medicine and Toxicology of the University of Granada). Genetic analysis was performed at the Laboratory of Genetic Analysis Lorgen in Granada PTS.

"What it is important about this study is that it proves that genetic testing can help in diagnosing LQTS in patients without any phenotypic expression, that is, in patients with normal results in electrocardiogram and medical imaging tests" researchers state. "This increases the chances of detecting relatives who may be carriers of the same disease but who obtain inconclusive results in other tests, which represents an important breakthrough, since these genetic diseases can be hereditary".

Although the results obtained are of great significance, the researchers warn about the fact that "this study is just an initial experience in our country, and it only describes the genotypic profile of a small sample of patients. A multicenter study will be necessary to obtain larger groups and draw conclusions that can be extrapolated to the general population" researchers state.


'/>"/>

Contact: Juan Jimnez Jimez
jimenez.jaimez@gmail.com
University of Granada
Source:Eurekalert

Related medicine news :

1. Researchers predict nearly 1.3 million cancer deaths in Europe in 2011
2. Researchers develop outline that may help weigh benefits of new imaging technologies
3. Project connects researchers, Latino communities to prevent cancer
4. Researchers get a grip on nervous systems receptors
5. U-M Medical School researchers set new record in NIH funding: $368.7 million
6. UNC researchers developing computer models for pediatric airway problems
7. Rheumatoid arthritis researchers redefine remission
8. Researchers lead search for better drug-addiction treatments
9. Researchers Craft Blood Vessels for Heart, Kidney Patients
10. Johns Hopkins researchers develop safer way to make induced pluripotent stem cells
11. BUSM researchers involved in first international collaboration on genetics of Alzheimers disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... ... October 13, 2017 , ... The International Association ... standards of excellence for the field of eating disorders, announces the opening of ... 2018 in Orlando, Florida at the Omni Resort at ChampionsGate. , ...
(Date:10/13/2017)... ... October 13, 2017 , ... Apple Rehab Shelton Lakes , which ... evacuation of the facility as part of a disaster drill on October 3rd. , ... and Shelton City Emergency Manager, as well as the Connecticut Long Term Care ...
(Date:10/13/2017)... ... 13, 2017 , ... Global Healthcare Management’s 4th Annual Kids Fun Run brought ... This free event, sponsored by Global Healthcare Management’s CEO, Jon Letko, is aimed at ... towards children of all ages; it is a non-competitive, non-timed event, which is all ...
(Date:10/13/2017)... ... October 13, 2017 , ... “The Journey: From the ... danger possible to save lost souls in the Philippines. “The Journey: From the Mountains ... a dedicated teacher of the Bible. She has taught all ages and currently teaches ...
(Date:10/12/2017)... Orleans, LA (PRWEB) , ... October 12, 2017 , ... ... centers in the U.S., announced today its plans to open a flagship location in ... will occupy the former Rooms To Go store next to Office Depot in the ...
Breaking Medicine News(10 mins):
(Date:10/10/2017)... -- NDS received FDA 510(k) clearance in May 2017 for its highly ... designed for endoscopy environments. An innovative secondary monitor solution, ZeroWire ... support the improvement of patient outcomes, procedural efficiency, and the lowering ... ... ...
(Date:10/4/2017)... Oct. 4, 2017  South Korean-based healthcare product Development ... aide "cprCUBE" on Kickstarter. The device will educate the ... arrests with better efficiency compared to the dated and ... feedback on efficacy of the compression for a more ... a goal to raise $5,000. ...
(Date:10/2/2017)... Lilly and Company (NYSE: LLY ) will ... 2017 on Tuesday, October 24, 2017. Lilly will also ... investment community and media to further detail the company,s ... at 9 a.m. Eastern time. Investors, media and the ... conference call through a link that will be posted ...
Breaking Medicine Technology: