A new study is looking at a gene mutation (MYBPC3), which affects up to 8 percent of people from India, Pakistan, Bangladesh and other South Asian countries, with the hope of developing new treatment or prevention strategies.
An estimated 55 million people of South Asian descent worldwide, including 200,000 people in the United States, carry the potentially fatal mutation that causes heart failure and potentially fatal heart attacks because it impairs the heart from effectively pumping blood.
The study was led by Sakthivel Sadayappan, PhD, MBA, of Loyola University Chicago Stritch School of Medicine and is published in the Journal of Biological Chemistry. The reality of this mutation, which causes hypertrophic cardiomyopathy, is pretty startling. Science Daily explained the magnitude:
When Investment Rhymes with Canada
Canada has a proud history of achievement in the areas of science and technology, and the field of biomanufacturing and life sciences is no exception.
Previous studies by Dr. Sadayappan and other researchers have found that between 5 percent and 8 percent of South Asians carry the mutation. Carriers have about a 80 percent chance of developing heart failure after age 45. Dr. Sadayappan first reported the mutation in 2001 at the World Congress of the International Society for Heart Research, and has been studying it ever since. He said that, based on a report from one of his collaborators, the mutation likely arose in a single person roughly 33,000 to 55,000 years ago. The mutation then spread throughout South Asia.
Sadayappan and colleagues took the mutated gene (which is missing 25 base pairs, or DNA letters, compared to the functional protein required for cardiac muscle contraction) and introduced it into rat heart muscle cells in a petri dish. They were then compared to the heart muscles cells that got a normal gene.
In cells with the mutant gene, the cMyBP-C protein was not incorporated into sarcomeres, the basic units of heart muscle. So rather than helping the sarcomeres contract properly, the mutant protein floated around the cell’s cytoplasm, producing a toxic effect. The study showed, for the first time, that expression of the mutant protein is sufficient to cause cardiac dysfunction.
The goal of this work, according to Sadayappan, is to hopefully develop therapies in the future for the millions of people who have this mutation.
[Photo from Flickr user Gerben of the lake]
