One In 100 Carry Mutation For Heart Disease

mmmscience brings us news of a new study, published in Nature Genetics by an international team of scientists, that tells a scary story: globally, 1% of the population carry a gene mutation that is almost guaranteed to lead to some form of heart problems. On the Indian subcontinent, the prevalence is 4%. The mutation is a 25-letter deletion of DNA data on the heart protein gene MYBPC3, believed to have arisen in India 30,000 years ago. The researchers say that the mutation wasn't selected out of the population because its effects don't occur until after the childbearing years. The article mentions a prediction that "by 2010 India's population will suffer approximately 60% of the world's heart disease."

Comments

MYPBC3 is one of my favorite proteins

[nbauman]

That's an interesting development in a well-known genetic heart defect. Myosin binding protein C is well known, and mutations in MYPBC3 are one of the most common causes of heart defects in humans (and cats).

If parents are comfortable with prenatal testing and abortion, this genetic defect could be effectively eliminated, in the same way that Down's syndrome has declined dramatically. In principle, the MYPBC3 defect would eventually be eliminated from the population.

MYPBC3 is a pretty cool protein, BTW. It connects the light chains and the heavy chains that make up muscle fibers. Obviously if the proteins that make up muscle fibers come apart you're going to have problems.

Here's a beautiful illustration http://pawpeds.com/pawacademy/health/mybpc3/figure1.jpg which shows how MYPBC3 comes out of the thick filament and holds onto the thin filament, sort of like this:
____________
====/==/====

(That illustration comes from an article here http://pawpeds.com/pawacademy/health/mybpc3/ about how Dr. Kittleson, in a stroke of nominative determinism, studied the defect in kittens.)

Another common cause of heart defects is protein called beta-myosin heavy chain (MYH7). MYH7 also comes out of the heavy chain. It's the one that looks like a bean pod. It looks a little like this:
____________
====P==P====

Here's a kewl animation of how it works http://www.sci.sdsu.edu/movies/actin_myosin.html with myosin walking along actin filaments. If you don't think this animation is funny, then molecular biology is not one of your aptitudes.

Or just do a Google image search for actin and myosin http://images.google.com/images?rls=ig&hl=en&q=actin+and+myosin

I'm sorry to say that the Wikipedia entries on this subject are not too user-friendly right now. Somebody should work on that.