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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."
India has a population of C. 1.1 billion, to a world total of 6.7 or so. If 1.1 billion have a 4% prevalence, that is ~44 million. If 6.7 billion have an overall 1% prevalence, that would be ~67 million. 67-44 gives us 23 million affected among the 5.6 billion non-indian humans. That makes for ~.4% among non-indians. This assumes, of course, that the 1% number is worldwide, rather than non-indian worldwide. 1/10th the risk is fairly dramatic; but .4% is only slightly less than 1 in 200 people, which is very much in the "somebody, probably several people, you know and or work with have it right now" territory rather than the "vague abstract risk" territory.
.4% is 1 in 250.
In the land of the blind, the one-eyed man is usually crucified.
That depends. If you're in America, your odds of getting heart disease are substantially greater than if you lived in Europe. Part of that is genetics, part is exercise, part is diet, part is that Europeans don't work themselves to death.
Yes, there are probably lots of genetic markers that could increase your risk of one condition or another. There will be other genetic markers that reduce your risk. Until you know more than just one or two, you have no means of knowing what the overall effect will be.
It's a small world and it smells funny; I'd buy another if it wasn't for the money; Take back what I paid (SoM)
You nailed it. KDawson is, at best, a hack. I'm beginning to wonder if Keith can actually read. It's a given he cannot read with any competence. And certainly is unable to post with a less than .06% accuracy in his summaries.
The gene is responsible for Hypertrophic Cardio Myopathy. HCM causes a thickening of the heart muscle and is often treated with medication, installation of an ICD to mitigate the chance of sudden cardiac death and for those with obstructions, a myectomy can be done. Something like 5% of HCM cases will require a heart transplant.
Gene testing is something I'll be doing soon to identify exactly which mutation I have, several are responsible for HCM. Once that's done I'll have my kids tested so they don't have to go through the annual testing that they are beginning this year.
HCM is the number one cause of sudden cardiac death in people under the age of 30. You may have heard of professional or college level athletes dying on the court/field/ whatever. This is usually the cause.
I am in otherwise excellent condition. I have had a "healthy lifestyle" my whole life but now I can't walk up a flight of stairs without experiencing shortness of breath. I will likely have a myectomy this year.
The good news is that this operation has a very high success rate. Another piece of good news is that if you have HCM and are treated by a specialist your life expectancy jumps back up to that of the general population.
As the genome gets further and further mapped, expect more and more people to be "uninsurable at any price".
Discrimination based on genetics is already outlawed by the Genetic Information Nondiscrimination Act.
Unfortunately for you, Indians aren't exactly flocking to the US for treatment. It's actually the other way round, since quality medical care is available for a fraction of the US price here (for those above the poverty line), which has spawned a whole "medical tourism" industry. The doctors here are as good as anywhere else in the world, and make very good money. Most successful doctors I have known have been very compassionate people. Good luck to you, kid.
Giant cells seem to be a function of the body to fight off infections. I have a feeling, that in the future, we will find out that many diseases are caused/triggered by viral infections, along with some failure of a tumor suppressor gene.
One of my patients had a heart transplant 20+ years ago and is doing great, so things look really good for you, once ya do the engine change.
Best of luck to ya.
Please donate organs - worms have no use for them.
..........FULL STOP.
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.