Chronic Heart Failure Gene
Reported July 20, 2009
(Ivanhoe Newswire) -- Researchers discovered a gene responsible for
heart muscle disease and chronic heart failure in some patients with dilated
cardiomyopathy (DCM). DCM is the most common cause of chronic heart failure
in young people and the most common reason for heart transplant.
Researchers at the Heart Institute at Cincinnati Children's Hospital Medical
Center have identified mutations in the ANKRD1 gene, which encodes a protein
that plays a role in the structure and functional ability of the heart.
"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," Jeffrey Towbin, M.D.,
co-director of the Heart Institute and director of cardiology at Cincinnati
Children's was quoted as saying. "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. In DCM, the left ventricle, the major pumping
chamber of the heart, is dilated, often without any obvious cause. The
decreased heart function can affect the lungs, liver, kidneys and other body
DCM occurs more frequently in men than in women and is most common between
the ages of 20 and 60, although it also occurs in fetuses, newborns and
children. About one in three cases of congestive heart failure is due to DCM.
Dr. Towbin and his colleagues screened 208 patients with DCM, mostly
children and young adults, for gene mutations. They found three,
disease-associated variants of the ANKRD1 gene. The four patients carrying
the variants were all male. This 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. According to Dr. Towbin,
“[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."
SOURCE: Journal of the American College of Cardiology, July 21, 2009