Dilated cardiomyopathy (DCM) is a leading cause of heart failure, affecting 1 in 250 people. The disease is characterized by an increase in the size of the left ventricle of the heart.
The stretched heart muscle is then unable to pump blood as effectively, which can lead to irregular heartbeat, heart valve problems, and ultimately heart failure.
As the leading cause of heart failure, DCM is the most common reason for carrying out a heart transplant, which is only offered in end-stage heart failure when all other treatment options and lifestyle changes have failed.
Despite years of work to improve patient survival after transplantation, the 10-year survival rate is still only 50%.
In a new study, researchers had the unique opportunity to study a single-family with inherited DCM to understand the cause of their disease.
Because it’s an inherited disease, studying the genome, or a complete set of DNA and genes, can provide important information on the mutation causing the disease.
They found a single mutation (P633L) in a gene coding for a protein called RBM20, which was disease-causing.
Furthermore, they identified a chemical called all-trans retinoic acid (ATRA) as a potential treatment of DCM.
ATRA is a drug used for the treatment of acne and a type of leukemia called acute promyelocytic leukemia.
The research was conducted by a team at Heidelberg and Stanford University.
The team believes that their findings provide fresh insight into heart failure, hinting at potential new treatment possibilities.
One author of the study is Lars Steinmetz from the European Molecular Biology Laboratory.
The study is published in Cell.
Copyright © 2020 Knowridge Science Report. All rights reserved.
