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Medicine Science

One In 100 Carry Mutation For Heart Disease 203

Posted by kdawson 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."
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One In 100 Carry Mutation For Heart Disease More

One In 100 Carry Mutation For Heart Disease

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  • Prolly a good thing for India's stability (Score:3, Insightful)

    by Anonymous Coward on Sunday January 18, 2009 @08:24PM (#26511399)

    India cannot support hundreds of millions of elderly pensioners. Long-term this will probably be a competitive advantage over China.

    • Re: (Score:3, Interesting)

      by Thiez ( 1281866 )

      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)

        by NIckGorton ( 974753 ) * on Sunday January 18, 2009 @09:06PM (#26511725)
        Or better yet, childhood diagnosis with this particular condition would merit lifetime treatment with statins and aggressive control of other modifying factors. Prevent these kids from smoking, get them in a daily exercise habit, teach them a good diet, and monitor and aggressively treat for diabetes and hypertension if/when they appear. Except for the genetic test itself, the rest of that is cheaper than spit. Even in the US, the real cost of the blood tests and medicines would be less than $200 annually. Add two NP visits and its maybe $400 annually. The cost in India would obviously be even cheaper.

        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?

        • Re: (Score:3, Insightful)

          by gravos ( 912628 )
          I agree with your sentiment, but the practical side of me worries that insurance companies would do whatever they could to find out whether we carried this defect or not.

          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)

            by IWannaBeAnAC ( 653701 )
            Fair enough, but you need to keep in mind that the problems you describe with medical insurance companies are almost exclusively a US problem. The US medical system is quite unique.

        • Re:Prolly a good thing for India's stability (Score:4)

          by Jartan ( 219704 ) on Sunday January 18, 2009 @11:48PM (#26512823)

          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."

          • 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.

            The whole "drug companies want to keep you alive and dependant, not cured" thing sounds a lot like a bogus conspiracy theory to me. I know next to nothing about medicine, and I'm open to the possibility that I'm totally wrong.

            First of all, I never hear any concrete examples, which is a good sign.

            Second, drug companies aren't the CIA, when they do things wrong, like testing in 3rd world countries without real informed consent, it becomes public knowledge before too long. If they were sitting on an effectiv

        • there are more kinds of heart disease than coronary artery disease you know. this particular gene predisposes one to cardiomyopathy, not atherosclerosis. so your treatment plan would just have the effect of making these patients miserable for 40 years before they keeled over from heart failure.

        • Re: (Score:2)

          by Nexus7 ( 2919 )

          > However what is expensive is the political will to prevent smoking in childen.

          A ban on public smoking is in effect in India.

          • The problem with India is that they have banned so many things in the past for dubious reasons and the enforcement is so corrupt that people tend to view any ban or issue with the government officials as a problem to be routed around with a bribe. The Indian people are so used to working around and over government regulations that even worthwile ones tend to be ingored at convenience in India.

    • Re: (Score:3, Insightful)

      by elashish14 ( 1302231 )

      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)

    by bchernicoff ( 788760 ) on Sunday January 18, 2009 @08:25PM (#26511401)
    I was recently diagnosed with Giant Cell Myocarditis [gcminfo.org] at age 29 and am now awaiting a heart transplant. No one knows why it hit me.

  • hmmmm (Score:5, Funny)

    by bistromath007 ( 1253428 ) on Sunday January 18, 2009 @08:30PM (#26511471)
    MYBPC3 = MY Blood Pressure Crap Crap Crap

  • yet another argument for universal health care. (Score:3, Interesting)

    by plasmacutter ( 901737 ) on Sunday January 18, 2009 @09:11PM (#26511765)

    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)

      by ScrewMaster ( 602015 ) * on Sunday January 18, 2009 @10:46PM (#26512455)

      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.

      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 ... 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."

      Unbe-fucking-leivable.

      • Re:yet another argument for universal health care. (Score:4, Insightful)

        by eth1 ( 94901 ) on Monday January 19, 2009 @11:08AM (#26516557)

        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.

      • Absolutely!

        I've been lucky enough to be pretty healthy, but every time I can remember seeing a doctor for something relatively minor, they found ways to use "creative wording" to bill my insurance the maximum amount possible.

        EG. One time, I had a wax build-up in my left ear. I woke up one morning and could barely hear out of it. The clinic I went to charged me for the nurse who tried to remove it, but wasn't very skilled at using the rinsing tool that's used to clean out the ear. So she went to ask for

    • Re: (Score:2, Informative)

      by j01123 ( 1147715 )

      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 [genome.gov] by the Genetic Information Nondiscrimination Act [wikipedia.org].

      • 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 [genome.gov] by the Genetic Information Nondiscrimination Act [wikipedia.org].

        How about a better one.. what about the fact men pay about 25% more than women for health, life, and auto?

        Funny how some forms of discrimination are allowed, but not based on genetic tests.. OH WAIT, IT IS ALLOWED, they can examine your records, determine tests showed genetic predisposition, deny coverage.

  • Misleading headline, as usual. (Score:5, Interesting)

    by NereusRen ( 811533 ) on Sunday January 18, 2009 @09:15PM (#26511789)

    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.

    • 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...

    • Yup. Pretty bad. Especially if you read the title or the abstract of the article in Nature Genetics.

      A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

      Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology remains largely unknown...Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart fa

    • Re: (Score:2)

      by jimicus ( 737525 )

      I hate to break it to you, but one day, you're gonna die. Whether or not you have this genetic mutation.

  • something is going to get you eventually (Score:5, Insightful)

    by timmarhy ( 659436 ) on Sunday January 18, 2009 @09:18PM (#26511827)
    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.
    • Yeah, like they used to say when I was a kid, "Eat right, get plenty of rest, exercise, DIE ANYWAYS". You just can't get away from it.

      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)

        by HiThere ( 15173 )

        Even the Howards know better than to do that, and they *don't* live forever. ... Except, perhaps, one of them.

    • 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.

      They sorta do. From TFA:

      Scientists express this genetic risk as an odds ratio, where 1.2 would be a small effect and 2.0 a large one. For the MYBPC3 mutation, the odds ratio is almost off-scale, a staggering 7.0. Carriers usually show few symptoms until middle age, but after that age most are symptomatic and suffer from a range of effects, at worst sudden cardiac death.

  • Sucks for them. (Score:3, Funny)

    by john.picard ( 1440397 ) on Sunday January 18, 2009 @09:32PM (#26511925)
    To those who have this mutation, I say sucks for you, suckers!! Hah hah!!

    Why the hell is my left arm hurting?

    • Why the hell is my left arm hurting?

      Start, uh, "clicking the mouse" with the right one. If your left arm goes numb without getting tingly when you move it, worry.

  • How long 'til this is treatable? (Score:3, Interesting)

    by HiThere ( 15173 ) <charleshixsn.earthlink@net> on Sunday January 18, 2009 @10:10PM (#26512191)

    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)

      by TubeSteak ( 669689 )

      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)

      by cat_jesus ( 525334 ) on Sunday January 18, 2009 @11:05PM (#26512567)
      The gene is responsible for Hypertrophic Cardio Myopathy [wikipedia.org]. HCM causes a thickening of the heart muscle and is often treated with medication, installation of an ICD [wikipedia.org] to mitigate the chance of sudden cardiac death and for those with obstructions, a myectomy [mayoclinic.org] 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 [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.

      • Re: (Score:2)

        by HiThere ( 15173 )

        I'm glad that it's surgically treatable. What I'm hoping for, and suggesting, however, is a treatment for youngsters that will prevent the disease from developing. Clearly for adults it's too late for treatments that only take effect while you are growing up, i.e., while the organs are still building themselves and naturally increasing in size.

  • Mutation was discovered in Fred Sanford's junk DNA (Score:5, Funny)

    by vandelais ( 164490 ) on Sunday January 18, 2009 @10:19PM (#26512249)

    "Health nuts are going to feel stupid someday, lying in hospitals dying of nothing." --Redd Foxx

  • Reading this ... gives .. me .. a .. heart.. attack ... worrying ... too .. much ...

    (and if I didn't get one, anti-William Shattner folks would sure have a fit ;))

  • See, a silver lining in the outsourcing of I.T. conundrum.

  • childbearing years (Score:3, Insightful)

    by v1 ( 525388 ) on Monday January 19, 2009 @01:22AM (#26513261) Homepage Journal

    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'd like to thank India for taking on this burden.

  • MYPBC3 is one of my favorite proteins (Score:5, Informative)

    by nbauman ( 624611 ) on Monday January 19, 2009 @02:51AM (#26513601) Homepage Journal

    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)

    by Anonymous Coward on Monday January 19, 2009 @04:51AM (#26514055)

    "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.

  • James Watson has 20 genes in the 5000 disease gene database according to an article in Nature last year. In last week's Sunday's New York Times Steve Pinker, one of the first 13 people to have their genomes fully sequenced, said he had several unexpressed bad genes, including a gene for baldness.

    I believe Congress is planning a law that says insurance companies cant deny on basis of genome, due to the current lack of understanding.

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