Slashdot Log In
One In 100 Carry Mutation For Heart Disease
Posted by
kdawson
on Sun Jan 18, 2009 08:19 PM
from the gotta-have-heart dept.
from the gotta-have-heart dept.
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."
Related Stories
This discussion has been archived.
No new comments can be posted.
The Fine Print: The following comments are owned by whoever posted them. We are not responsible for them in any way.
Full
Abbreviated
Hidden
Loading... please wait.
Prolly a good thing for India's stability (Score:3, Insightful)
India cannot support hundreds of millions of elderly pensioners. Long-term this will probably be a competitive advantage over China.
Re: (Score:3, Interesting)
That's one way of looking at it. Then again, maybe these people will end up in hospital and get some (expensive) medical treatment rather than just dropping dead unannounced the moment they stop working, giving Indea a competitive disadvantage.
Re:Prolly a good thing for India's stability (Score:5, Insightful)
However what is expensive is the political will to prevent smoking in children. Its also politically expensive to have cheap and effective public health prevention programs. Heaven forbid you give medicines or pap smears to people who don't have insurance or money.... why.... it.... would be an ENTITLEMENT!
Shudder! Aiiigh! No, not that!
Wait, did that sound bitter?
Parent
Re: (Score:3, Insightful)
Even if you make it illegal for them to discriminate on genetic defects, there's still a risk they'll try to get around the legislation...
Re: (Score:3, Interesting)
Re:Prolly a good thing for India's stability (Score:4)
I always find posts like this vaguely disturbing. It's worded as if these people are almost lucky. As if this life threatening disease is somehow a gift so that they will have plenty of incentive to live healthy.
Why not say: "Or better yet, someone will come up with a cheap cure that isn't some tailor made weekly supplement drug designed to make pharma corps money until the patient dies."
Parent
Re: (Score:3, Insightful)
India cannot support hundreds of millions of elderly pensioners. Long-term this will probably be a competitive advantage over China.
I don't know where you come from, but usually people in modern civilizations make an effort to help people live. Why don't we just kill everyone over 70? Or at least refuse them medical treatment? Or how about eliminating all forms of pension? That's a good competitive advantage.
I guess I should get tested. (Score:5, Interesting)
Re:I guess I should get tested. (Score:5, Insightful)
Good luck. Wishing you the best.
Parent
Re: (Score:3, Interesting)
I actually know one survived this problem with a heart transplant. You are really a lucky one in those unfortunate, most people with this problem died before doctors can diagnose this problem or even before seeing a doctor. I heard that there were only about 300 diagnosed cases (including those failed to get a heart transplant).
Best wishes. I know how painful and stressful it can be, but you are really the lucky one already, just one more step and you can live a common life again.
Contact me if you lik
One day we'll know, maybe a virus (Score:5, Informative)
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.
Parent
Re: (Score:3, Interesting)
Organ Donation done Right? [lifesharers.com] Any thoughts?
Re:I guess I should get tested. (Score:5, Insightful)
Parent
hmmmm (Score:5, Funny)
Re: (Score:2)
25 letters missing? That's almost a whole alphabet!
yet another argument for universal health care. (Score:3, Interesting)
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.
Re:yet another argument for universal health care. (Score:5, Interesting)
I welcome another 1-4% of the world to my hell.
Yeah, those bloodsuckers will happily take your premiums year after year, until you actually start to cost them money. Then they find ways to get rid of you. Now, Federal Law in the U.S. says they can't just drop you arbitrarily, but they can jack your premiums up to the point where you can no longer pay. That happened to my Dad: he paid Aetna for decades and hardly used them ... then when he became seriously ill they ramped up his premiums to about $20,000 a year, so we had give them up, and of course nobody else would insure him for less. Fortunately (and I use the term loosely) he suffered total renal failure and ended up on dialysis. That's one of the few medical conditions that will automatically give you Medicare at any age (he was 62 when he died.) If you're in any kind of a similar situation, man, I feel for you.
... and billions could be saved (along with many lives) if insurance carriers would spend a little money trying to reduce waste and outright fraud. For example, I had a girlfriend whose father had to go in for an MRI at one point. Fairly routine, except that the hospital billed their insurance for two MRIs, both listed as being on the same day at the same time. One could say, well, hell, it's not your own money at stake, but when you have a lifetime cap and are getting old ... well. So her mother calls the insurance company (repeatedly) to complain about this fraudulent billing (at the time an MRI was very expensive.) She was told (repeatedly!) that "we have to go by what the hospital says."
What truly torques me into a preztel are the routine conflicts-of-interest and general corruption/collusion between insurance companies and medical suppliers. It's really obscene
Unbe-fucking-leivable.
Parent
Re:yet another argument for universal health care. (Score:4, Insightful)
And how about this one:
My mom needs a hearing aid. When she recently had to get a new one, this is what the hearing aid vendor told her. The MSRP is $12k (each!). If you have insurance, they bill them at $8k each. But, if you don't have insurance, they'll give you a "discount" and sell them to you directly at $3k each. They probably still make money on them at $3k, but they get to bilk an extra $5k out of the insurance company if they can... Since they never actually charge the "MSRP," I can only surmise that it's that high because they have to "discount" it for the insurance companies by a certain percent.
Parent
Re:yet another argument for universal health care. (Score:5, Insightful)
Here's your loophole:
The Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future.
"we noticed you paid for a few more tests recently, and have been sick more often"
there go your rates, or "im sorry your coverage is denied"
WOW.. I haven't seen a loophole this big for abuse since the anti-circumvention clause of the DMCA
Parent
Misleading headline, as usual. (Score:5, Interesting)
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.
Re: (Score:2)
Percentage of people with no Indian ancestors at all: 0%
Well, OK whatever the percent chance of that non-beneficial mutation arising elsewhere for which 0% is a pretty good estimate...
something is going to get you eventually (Score:5, Insightful)
Re: (Score:2)
Statistically speaking, somebody ought to have the capacity to live forever, but they haven't popped their head up to have it shot off yet by us mere mortals...
Re: (Score:2)
They sorta do. From TFA:
Sucks for them. (Score:3, Funny)
Why the hell is my left arm hurting?
How long 'til this is treatable? (Score:3, Interesting)
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.
Re: (Score:3, Insightful)
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.
FTFA: Carriers could be identified at a young age by genetic screening and adopt a healthier lifestyle.
IMO, that is some pie in the sky thinking.
One of the top problems in the medical field is patient non-compliance.
It's hard enough for a doctor to get their patients to finish taking a regimen of antibiotics, much less change to a healthier lifestyle.
I have this disease (Score:4, Informative)
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 [mayoclinic.org] 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.
Parent
Mutation was discovered in Fred Sanford's junk DNA (Score:5, Funny)
"Health nuts are going to feel stupid someday, lying in hospitals dying of nothing." --Redd Foxx
childbearing years (Score:3, Insightful)
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..
MYPBC3 is one of my favorite proteins (Score:5, Informative)
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 [pawpeds.com] 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/ [pawpeds.com] 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 [sdsu.edu] 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 [google.com]
I'm sorry to say that the Wikipedia entries on this subject are not too user-friendly right now. Somebody should work on that.
Selection Pressure (Score:3, Insightful)
"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.
Re:If the prevalence in India is 4 in 100 (Score:5, Informative)
Parent
Re:If the prevalence in India is 4 in 100 (Score:4, Informative)
.4% is 1 in 250.
Parent
Re: (Score:3, Insightful)
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.
Re: (Score:2)
Well, yes... but if you think you know your genetic history, and don't have a printed gene sequence test in front of you, the odds are you're wrong.
Talk to genetic paleontologists. Genes are a lot more mobile among populations than people admit.
Re:If the prevalence in India is 4 in 100 (Score:5, Interesting)
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.
Parent
Re: (Score:3, Funny)
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".
Re:Where the moneys at yo! (Score:5, Insightful)
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.
Parent
Re: (Score:3, Interesting)
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.
Re: (Score:2)
Because, no one else has thought of that and hence there won't be an over supply of cardiologists in a decade...
Do it for the money = be a crappy doctor (Score:5, Insightful)
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.
Parent
Re:Really... (Score:4, Insightful)
And yet, if you were in that 30-60% I'm sure you'd be seeing things much differently.
Parent
I have an alternative line of thought for you.. (Score:2)
It always amazes me how science-leaning people such as those on slashdot seem to think all disease should be made to go away. Anybody who has any sense of reality knows that our species is FAR BEYOND overpopulated. I find it sickening that those who claim to have logical minds think that unnatural population levels can "be made to work".
The fact is that we need BILLIONS of people to die if the planet and its inhabitants (all living species, not just human) are ever going to have a chance. Call me sadistic, but for the sake of every other species of life on this planet... I wish the rate of heart disease was 30-60%, not 1%.
Or we could look at it from the other perspective.
Our evolutionary specialty is technology. Crisies place pressure on us to create new technology, we lose part of our species, then create the new technology and move on.
The dramatic increase in population is necessary to compel the colonization of nearby celestial bodies.
I applaud it, and hope it continues. We either adapt or die, and if we can't exercise our evolutionary niche, then it was truly limited and its time for us to go.
Re:Stock Market (Score:5, Funny)
This is why I only invest in racist insurance companies...
Parent
Re:Stock Market (Score:5, Insightful)
Wait until the US has some sort of universal health care, and immigration from India is outlawed as a "cost cutting measure".
Parent
Re: (Score:3, Insightful)
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?
America doesn't need this gene (Score:5, Insightful)
Parent
Re:Odds are... (Score:4, Informative)
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.
Parent
Re: (Score:3, Interesting)
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