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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 cannot support hundreds of millions of elderly pensioners. Long-term this will probably be a competitive advantage over China.
I was recently diagnosed with Giant Cell Myocarditis at age 29 and am now awaiting a heart transplant. No one knows why it hit me.
MYBPC3 = MY Blood Pressure Crap Crap Crap
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.
Most of the population affected outside India are probably Indian or have a significant Indian ancestry. This doesn't change your numbers, but shows that the risk is actually much higher or lower depending on your social group.
A mutant with 60+million descendants. Perhaps there is hope for me after all.
circulation issues are known to cause ED, but are also known to cause priopism.
I suspect the latter happened in this "mutant".
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Watch health insurers start demanding blood samples.
They already rifle through our health records freely thanks to holes they bought in our so called medical "privacy" standards.
As the genome gets further and further mapped, expect more and more people to be "uninsurable at any price".
I welcome another 1-4% of the world to my hell.
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Oooh, 1 in 100! Sounds scary! I'm at risk! Wait... lets apply some critical thinking to that number, shall we?
globally, 1% of the population carry a gene mutation that is almost guaranteed to lead to some form of heart problems.
World population is about 6.7B. Total number of people with this mutation in the world:
1% * 6.7B = 67M.
On the Indian subcontinent, the prevalence is 4%.
According to Wikipedia, the subcontinent "accounts for about 40 percent of Asia's population," which is 4B. Total number of people there with this mutation:
4% * 40% * 4B = 64M
So, the percentage of people NOT on the Indian subcontinent that carry this mutation is:
(67M - 64M) / (6.7B - 40%*4B) = 0.06%.
With such a great geographical disparity in incidence, using the global 1% figure to generate the headline of "1 in 100 carry mutation" is incredibly misleading.
The linked article is quite a bit better. It's titled "The heart disease mutation carried by 60 million," and focuses on this as being primarily an Indian problem. Somehow I'm not surprised to see kdawson as the editor on this one.
the thing i hate about these nonsense genetic claims, is that there is a 100% probability you are going to die of something. so claiming 60% of people will die of heart disease (because heart failure and cancer are what take out most of our population) is like pronouncing you have discovered people grow old and die. what would be more accurate, but you will never see them do it, is to tell us who will die a PREMATURE death due to heart disease. the reason they won't do it is there is far more to what kills you than genetics and admitting as much might see grant money going else where.
If you mod me down, I will become more powerful than you can imagine....
Let me give you two bits of advice, Sport:
1) If you are going into medicine for the money and are pre-med now, you are basically going to end up in the same situation that all those kids coming out of Harvard with MBAs expecting to make millions on Wall Street. Once you finish 4 years of med school, three of IM residency, and 2 of Cards fellowship, the well will have dried up significantly for specialists who don't do fee for service (which few people are for a cath and stent). Have you considered plastics?
2) If you insist on persisting with your career plans, take Spanish now. You're going to be amazed how being bilingual in a useful language in the US sells on your med school and residency application. Because while you are going to be making less money, you are going to have a lot more Spanish speaking patients when you get out. Maybe if you grow a sense of moral responsibility to your fellow men (which should be a pre-rec for med school but sadly isn't) you'll be glad you took my advice and can converse with your patients in their native language in a culturally competent way.
Or just go into plastics.
And yet, if you were in that 30-60% I'm sure you'd be seeing things much differently.
This is why I only invest in racist insurance companies...
Sleep your way to a whiter smile...date a dentist!
With over 6 billion 1% possibly looks like a natural population control mechanism.
Which part of "[The mutation's] effects don't occur until after the childbearing years." did you fail to grasp?
node-def: a tactical hacking sim. Now in open beta.
Why the hell is my left arm hurting?
Don't worry about carrying a 1% gene. Carrying a BigMac bag is far more likely to lead to heart attacks than genetics.
Engineering is the art of compromise.
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)
For all you know, the last time you were given a drugs test at work, you were screened by the company for such risks. It's not like you'll ever know if they know. They're not going to tell you, all you'll know is that your premiums seem higher than normal.
So go ahead. Take the test anonymously. You can buy a "gift kit" to be delivered to a PO Box, the company doing the testing won't care. Then you will know the answer and be able to take sensible precautions (when they're known).
It won't help the insurance companies, but they're rich enough and manipulative enough that they don't need your help and there's nothing you can do to stop them. You can reject all the testing companies you like, but if they wanted to know that badly, they'd know.
Isn't it smarter to know at least as much as your insurance company about your health? Paranoia won't save you now.
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)
Now that they've identified the problem, there's a reasonable chance that it can be treated. It might well require a weekly pill or some such, or even a shot, as RNA is too delicate to trust to the gut. But many such things are treatable already.
India has a flourishing medical community, including many pharmaceutical companies. I would expect them to jump on this quickly.
I think we've pushed this "anyone can grow up to be president" thing too far.
"Health nuts are going to feel stupid someday, lying in hospitals dying of nothing." --Redd Foxx
Game: Player 'Donald J Trump' now has AI skill level 'experimental'.
Wait until the US has some sort of universal health care, and immigration from India is outlawed as a "cost cutting measure".
... and that's when the C.H.U.D.'s came at me.
The presence of this deletion in many Indian populations with varied geographical and ancestral backgrounds raises the question of how geographically widespread it is outside India. We therefore also analyzed 63 world population samples, comprising 2,085 indigenous individuals from 26 countries including all five continents. The 25-bp deletion was observed in Pakistan, Sri Lanka, Indonesia and Malaysia, (all heterozygotes) but was absent from other samples. Thus, the deletion is a common variant in individuals from South Asia, present in Southeast Asia, but undetectable elsewhere (Fig. 3 and Supplementary Table 5 online).
The supplementary materials give the sample sizes for each of the ethnic groups that were sampled and the number of deletion carriers. Most of the individual samples are small, but in the aggregate they do strongly suggest that the deletion is practically non-existent outside of South Asia and a few neighboring areas.
This does raise the question of how the media got this 1% prevalence estimate, unless I completely missed it in the article. In general, media outlets don't report the contents of peer-reviewed articles, they report the contents of press releases that accompany (or precede) the articles.
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.
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.
Honestly, even as a very specialized surgeon, if I wanted to make money, I could have done much better on Wall St. My brother who is an economist, has done quite well, and works much less than I.
The job has sooo many hassles, and stress that if you don't love what you're doing, then it's not worth it.
Seriously.
Honestly, I love my fucking job, and would still do it, even if I won the lottery. Just would work less than 50 hours a week, instead of 80.
..........FULL STOP.
The researchers say that the mutation wasn't selected out of the population because its effects don't occur until after the childbearing years.
It's not that simple though. One's roll in the gene pool does not (indirectly) end when you lose fertility. The grandparents care for the children, and in doing so, their children's (related) DNA is encouraged. Also, unlike women, men don't have menopause, and are also affected by heart disease etc and a man's DNA is just as genetically useful at 60 as it was at 25.
I'd question that researcher's conclusion..
I work for the Department of Redundancy Department.
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.
Thanks for the sanity check. Globalization doesn't just affect people that work on assembly lines.
Now that the quality of care is becoming on par, and often better than that in the US, I think it's only a matter of time before the big daddy of medical care in the US, insurance, starts moving towards cost cutting via treatment overseas. A number of insurance companies in Europe are already doing this, and NHS in the UK has a pilot voucher program going for overseas care... Only a matter of time.
"The researchers say that the mutation wasn't selected out of the population because its effects don't occur until after the childbearing years"
That doesn't make sense. Surviving beyond childbearing years would have a large impact on your offspring's reproductive capacity.
Unless perhaps the effect of the gene kicks in just as you're getting old enough to require support rather than give it. In which case, the gene might even be selected *for*.
Posting as AC because 1. no account 2. cold-hearted analysis.