The gene is supposed to code for a protein called titin. In the case of 1% of people, the gene produces a mutated version of the protein, what researchers are calling titin-truncating variants. Researchers began studying the protein in rats as well as humans. When the researchers began studying healthy rats with the faulty genes, they found that while the animals appeared healthy, putting abnormal stress on their hearts triggered dilated cardiomyopathy.
Researchers also studied 1400 adults. Genetic analysis showed that 14 of the 1400, exactly 1%, had the titin gene variants. As well as having the titin gene variants, 14 people had abnormally large hearts, in particular the main pumping chamber, when compared to the rest of the group.
http://www.medicalnewstoday.com/articles/314265.php
http://www.med-health.net/Heart-Failure-Stages.html
This is very fascinating! I wonder if specific regional groups are more at risk than others? Although it's a fairly low chance that any of us have this defect, I would imagine that people in first world countries would see higher rates of this due to constant environmental, familial, and work stresses.
ReplyDelete