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

I guess I should get tested.

[bchernicoff]

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.

Re:I guess I should get tested.

[cyfer2000]

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 like.

Re:Prolly a good thing for India's stability

[Thiez]

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.

yet another argument for universal health care.

[plasmacutter]

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.

[ScrewMaster]

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.

Misleading headline, as usual.

[NereusRen]

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.

So

[tyrione]

With over 6 billion 1% possibly looks like a natural population control mechanism.

Re:There is no way I will ever get tested for this

[jd]

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.

How long 'til this is treatable?

[HiThere]

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:If the prevalence in India is 4 in 100

[j01123]

I did a quick read of the Nature Genetics letter and, as far as I can tell, it makes no claims as to the worldwide frequency of the allele (actually a micro-deletion). Accurately measuring allele frequencies for the world's population is not something that most studies are adequately designed for, so it's not surprising that they don't provide an estimate. Here's what they have to say about the deletion's frequency outside of India.

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.

Re:Where the moneys at yo!

[robot_lords_of_tokyo]

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:Prolly a good thing for India's stability

[IWannaBeAnAC]

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:One day we'll know, maybe a virus

[drinkypoo]

Organ Donation done Right? Any thoughts?