The mutated gene encodes for a protein, called cardiac myosin binding protein-C (cMyBP-C). cMyBP-C controls cardiac muscle contractions and is critical for the normal functioning of the heart. 25 base pairs (DNA letters) are missing in the mutated gene, due to which the tail end of the protein is altered.
These study findings could point the way to future treatments that would remove the mutant protein from cells and introduce normal cMyBP-C protein, and also prevention strategies for an estimated 55 million people of South Asian descent worldwide, including 200,000 people in the United States, who carry the potentially fatal mutation. Researchers are also looking forward to identify lifestyle and environmental risk factors that aggravate hypertrophic cardiomyopathy in people who carry the gene mutation.