Novel gene found for dilated cardiomyopathy

Jul 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 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 , 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 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 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 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.

Source: Cincinnati Children's Hospital Medical Center (news : web)

Explore further: Scientists develop genome-wide mutation hunting computational software for genomic medicine

add to favorites email to friend print save as pdf

Related Stories

Key finding in rare muscle disease

Jan 17, 2007

The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Austra ...

New heart failure device is tested

Oct 17, 2006

Physicians at 50 U.S. medical facilities are taking part in a multinational clinical trial of a device designed to help heart failure victims.

Environment plays role in complex heart defect

Mar 30, 2009

A congenital heart disease that often leads to death in newborns is significantly more common during the summer, leading researchers to believe that the environment, and not just genes that affect the heart, may play a role ...

Recommended for you

Study finds crucial step in DNA repair

Aug 18, 2014

Scientists at Washington State University have identified a crucial step in DNA repair that could lead to targeted gene therapy for hereditary diseases such as "children of the moon" and a common form of ...

User comments : 0