Many kinds of heart disease are caused by genetics. A strong association between a genetic mutation and a rare kind of
heart muscle disease has been discovered by researchers at the
University of Colorado Anschutz Medical Campus.
The finding, published this week in the Journal of the American College of Cardiology
, could improve understanding of the disease and lead to new treatments.
‘Several people with left ventricular noncompaction (LVNC) had a mutation in a gene called Obscurin, revealed a study.’
"There are many kinds of cardiomyopathies that can lead to heart
failure so this is a serious problem," said Teisha J. Rowland, a
post-doctoral fellow in the lab of Luisa Mestroni and Matthew R. G.
Taylor at the University of Colorado School of Medicine and
first author of the study.
The Mestroni and Taylor lab sequenced nearly 5,000 genes in 335
patients with a family history of heart muscle disease, looking for
mutations that could cause a variety of cardiomyopathies.
happens, the disease is often more severe and happens at an earlier
age," said Rowland, who studies genetics and cardiology. "So we look at
the DNA in entire families to see what sort of genetic variants those
with the illness have in common."
They found that several people with left ventricular noncompaction
(LVNC) had a mutation in a gene called Obscurin. Obscurin is part of the
sarcomere, the basic unit of striated muscles that pull and glide past
each other when muscles contract. That includes the heart muscle. If
there is a mutation in Obscurin that process may not function properly.
"We found a strong association between this gene, which has not been
studied much, and this rare form of genetic heart disease," Rowland
said. "Left ventricular noncompaction is thought to happen during early
human development. It would be interesting to see if mutated Obscurin
affects heart formation during development."
Rowland said the findings point to areas warranting further attention.
"We expect this will ultimately improve our understanding of the disease," she said.