Navigation Links
Novel gene found for dilated cardiomyopathy
Date:7/13/2009

Researchers in the Heart Institute at Cincinnati Children's Hospital Medical Center have discovered a novel gene responsible for heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy (DCM).

Mutations in the ANKRD1 gene may cause DCM, which is the most common cause of chronic heart failure in young people and the most common reason for heart transplant. ANKRD1 is a gene that encodes a protein that plays a role in the structure and functional ability of the heart.

The study, conducted internationally, is published in the July 21 issue of the Journal of the American College of Cardiology, which goes online July 13.

"Our study indicates that variants in ANKRD1 result in dysfunction of the contraction apparatus and signaling machinery of the heart the method by which cells communicate to influence heart function," says Jeffrey Towbin, M.D., co-director of the Heart Institute and director of cardiology at Cincinnati Children's. "This clarifies the mechanisms by which these inherited mutations cause disease in a subset of DCM patients."

DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, kidneys and other body systems. DCM is one of the cardiomyopathies, a group of diseases that primarily affect the heart muscle. Cardiomyopathies have different causes and affect the heart in a variety of ways. In DCM the major pumping chamber of the heart, the left ventricle, is dilated, often without any obvious cause.

DCM occurs more frequently in men than in women and is most common between the ages of 20 and 60 years, although it also occurs in fetuses, newborns and children. About one in three cases of congestive heart failure is due to DCM, which also occurs in children.

Dr. Towbin and his colleagues screened 208 patients, mostly children and young adults, with DCM for gene mutations. They found three, disease-associated variants of the ANKRD1 gene. All four patients carrying the variants were male. This prevalence rate is consistent with prevalence data for most of the other known genes associated with DCM. This finding confirms previous gene discoveries by Dr. Towbin's group. It also "provides us with a better understanding of the causes and mechanisms involved in the development of this disease and will enable better genetic testing and new treatments to be devised to improve outcomes of this serious disease," according to Dr. Towbin.


'/>"/>

Contact: Nick Miller
nicholas.miller@cchmc.org
513-803-6035
Cincinnati Children's Hospital Medical Center
Source:Eurekalert

Related biology technology :

1. Novel drug discovery tool could identify promising new therapies for Parkinsons disease
2. Novel method predicts impact of a covert anthrax release
3. Microbix Files First Patent Applications On Novel Technology Platform For Large Semen Sexing Market
4. Novel handheld device detects anthrax with outstanding accuracy and reliability
5. Funxional Successfully Completes Initial Clinical Trial of FX125L, an Anti-Inflammatory Drug With a Novel Mechanism of Action
6. Palkion Selects Novel Oral Development Candidate for the Treatment of Anemia
7. Clavis Pharma Raises NOK 129 Million (USD 20 Million) in a Private Placement to Fund Further Development of its Pipeline of Novel Anticancer Drug Candidates
8. Glenmarks Novel Molecule for Diabetes, Melogliptin to Enter Phase III Trials
9. Allied Minds Establishes New Company to Commercialize Novel UC Irvine Tinnitus Therapy
10. Calvert Research Licenses Novel Technology to Treat Age Related Macular Degeneration from Tulane University
11. Novavax and the NIH Agree to Evaluate a Virus-like Particle (VLP) Vaccine Candidate Against the Novel Influenza A (H1N1) Virus
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/23/2016)... , June 23, 2016  Blueprint Bio, a company ... to the medical community, has closed its Series A ... Nunez . "We have received a commitment ... capital we need to meet our current goals," stated ... us the runway to complete validation on the current ...
(Date:6/23/2016)... Francisco, CA (PRWEB) , ... June 23, 2016 ... ... (EDC) software, is exhibiting at the Pennsylvania Convention Center and will showcase its ... Annual conference. ClinCapture will also be presenting a scientific poster on Disrupting Clinical ...
(Date:6/23/2016)... , June 22, 2016  Amgen (NASDAQ: ... of the QB3@953 life sciences incubator to ... health. The shared laboratory space at QB3@953 was created ... a key obstacle for many early stage organizations - ... of the sponsorship, Amgen launched two "Amgen Golden Ticket" ...
(Date:6/22/2016)... 22, 2016 Research and Markets has announced ... report to their offering. ... from $29.3 billion in 2013. The market is expected to grow ... 2015 to 2020, increasing from $50.6 billion in 2015 to $96.6 ... during the forecast period (2015 to 2020) are discussed. As well, ...
Breaking Biology Technology:
(Date:5/20/2016)... , May 20, 2016  VoiceIt is ... partnership with VoicePass. By working together, ... experience.  Because VoiceIt and VoicePass take slightly different ... engines increases both security and usability. ... excitement about this new partnership. "This ...
(Date:5/12/2016)... 2016 WearablesResearch.com , a brand of ... results from the Q1 wave of its quarterly wearables ... consumers, receptivity to a program where they would receive ... insurance company. "We were surprised to see ... Michael LaColla , CEO of Troubadour Research, "primarily because ...
(Date:5/3/2016)...  Neurotechnology, a provider of high-precision biometric identification ... Identification System (ABIS) , a complete system for ... can process multiple complex biometric transactions with high ... face or iris biometrics. It leverages the core ... MegaMatcher Accelerator , which have been used in ...
Breaking Biology News(10 mins):