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Gene Mutation May Hold The Secret To The Next Cholesterol Drug

We hear about the genetic mutation that crushes cholesterol, and maybe heart disease, and the race to bring it to you.

Detroit Medical Center nurse Etrulia Lake checks the cholesterol level of Ken Bartell during a health screening for African American men, Saturday June 20, 2009. According to the CDC, about 1 in every 3 adults in the U.S. has high LDL (the "bad") cholesterol. (Steve Perez, The Detroit Free Press/AP)

Detroit Medical Center nurse Etrulia Lake checks the cholesterol level of Ken Bartell during a health screening for African American men, Saturday June 20, 2009. According to the CDC, about 1 in every 3 adults in the U.S. has high LDL, or “bad,” cholesterol. (Steve Perez, The Detroit Free Press/AP)

It reads like a sci-fi thriller.  One healthy, young, innocent mom – a fit aerobics instructor outside Dallas – carries a mutant gene that could save the nation from its biggest killer.  In fact, a double dose of a genetic mutation that drives the killer – bad cholesterol, LDL, with its deadly partner, heart disease – to unbelievable lows.  Levels no one thought possible.

She’s been found.  The genetics have been laid out.  And the race is now on to make the cholesterol-crushing super-drug that could one day crush America’s Number One killer – heart disease.

This hour On Point:  the mutant gene, and the race for that drug.

- Tom Ashbrook


Gina Kolata, science and medicine reporter for The New York Times, who recently wrote “Rare Mutation Ignites Race For Cholesterol Drug” She’s also the author of “Rethinking Thin: The New Science of Weight Loss and the Myths and Realities of Dieting.” (@ginakolata)

Dr. Gary Gibbons, director of the National Heart, Lung, and Blood Institute at the National Institutes of Health.

Sean Harper, executive vice president of Research and Development at Amgen, a company that discovers, develops, manufactures and delivers innovative human therapeutics.

From Tom’s Reading List

The New York Times: Rare Mutation Ignites Race for Cholesterol Drug – “The discovery of the mutation and of the two women with their dazzlingly low LDL levels has set off one of the greatest medical chases ever. It is a fevered race among three pharmaceutical companies, Amgen, Pfizer and Sanofi, to test and win approval for a drug that mimics the effects of the mutation, drives LDL levels to new lows and prevents heart attacks. All three companies have drugs in clinical trials and report that their results, so far, are exciting.”

Nature: Gene-Based Therapeutic Approaches — “Can we take genetic “pills” for disease-related mutations? No, not yet, but our knowledge of the human genome sequence has enabled the development of other gene-based therapeutic approaches.”

Health Resources

American Heart Association: Cholesterol — “Cholesterol itself isn’t bad. We all have and need this wax-like substance in our bodies. Learn about the so-called ‘good’ and ‘bad’ cholesterol, where it comes from, and why it’s important for your health.”

CDC: Cholesterol — “Having high blood cholesterol puts you at risk for heart disease, the leading cause of death in the United States. About 1 of every 6 adult Americans has high blood cholesterol.”

FDA: Cholesterol And Statins Infographic — “Cholesterol has a bad rap. In reality, your body needs cholesterol to make hormones, vitamin D, and bile acids that help you digest food in your intestines. Cholesterol keeps you healthy. However, too much of one type (LDL or Low-Density Liproteins) or not enough of another (HDL or High-Density Lipoproteins) can put you at risk for heart disease, heart attack, or stroke.”

NIH: What Is Cholesterol? — “Your body needs some cholesterol to make hormones, vitamin D, and substances that help you digest foods. Your body makes all the cholesterol it needs. However, cholesterol also is found in some of the foods you eat.”


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  • Wm_James_from_Missouri

    A couple of days ago, NPR, “On Point” had a guest talking down supplements and alternative medicine techniques. Many herbs and supplements help to regulate genes, epigenetically. This show will be selling the idea of a man made pill that regulates genes to modify cholesterol. I wonder if the good doctor that was speaking the other day will be endorsing the progress being made by these pharmaceutical companies ? Hey, I am for progress in any form. As Frasier Crane might have said, “ Go ahead Boston, I’m listening”.

  • Jasoturner

    Of course, we’ll be in a pickle if/when they find out that super low cholesterol either doesn’t really help some cohort or another, or that super low cholesterol has other effects, such as increased risk of stroke (see, for instance, Japan) that are not currently manifest because the super low cholesterol condition is so rare.

    Working in the health care sector, I admire doctors and researchers very much, but they are, frankly, often very poor scientists who are unwilling to challenge their pre-conceived notions – just look at the mess known as nutritional “science” for a canonical example.  Consequently, I suspect it will be years of studying treatment and side effects before we know whether this potential drug is really a “win” or not.  Cholesterol may correlate with heart disease, but is it really the cause?

  • Jim

    if we have a cure for cholesterol we will see a HUGE comeback of junk and fast food. Welcome back buck doubles and MickeyDs!

    • Expanded_Consciousness

      So what.

      • brettearle

        So what?

        Because fast food has other health dangers.

        That’s so what.

        Me thinks it’d be time to Expand your Consciousness.

        • Expanded_Consciousness

          So you oppose the cure for cholesterol? Don’t cure STDs, if you do people will have sex!

          • brettearle

            I was referring to controlling an increase in fat intake–REGARDLESS of medical advances.

            If this effective cholesterol drug comes out, people can STILL limit their fat intake.

            [Sex, of course, often knows little or no prudence--even though it often needs to.]

          • MITBeta

            It’s already very easy for many people to limit their fat intake: stop eating so much sugar.  

            When you do that, your body tells you when to stop eating fat.  With too much sugar, your body misses the “stop eating” signal.

      • Jim

        so that you can gain an additional 200 lbs on your already ugly overweight frame and be PROUD OF YOURSELF. hahaha…

  • MarkVII88

    Drug companies spend hundreds of millions on R&D for these drugs.  They’re going to come out first with the most expensive version of this drug possible then, if the profits are there, they may come out with a more conventional version of the compound (ie. pill vs. injections) in 5-10 more years.  There will always be people willing to pay the price.  Drug companies are out to maximize their profits.  Just look up GSK in the UK, in legal trouble for allegedly paying bribes to physicians to (over) prescribe their drugs.

    • brettearle

      Relatively Common Medications are always available, to the public–eventually–at a reasonable price.

      • MarkVII88

        Yes, that’s true but generally only after the patents held by big drug companies have run out, allowing more generics to come into play. 

        • brettearle

          Offhand, I do not know the answer to this.

          Maybe you do.

          If a drug has been proven to be especially effective, can’t the exclusivity be shortened?

          If not, The Center for Science in the Public Interest ought to be all over this.

          So, are you saying that Simvastatin [generic of Zocor] was not available for years, after Zocor came out?

  • Rick Evans

    If you think potential therapies based on this gene mutation will be expensive, and they will be, imagine if SCOTUS had ruled the wrong way.

  • http://www.facebook.com/profile.php?id=1503085953 Meg Fairbank

    I am very happy that medicine has largely eliminated the childhood diseases that killed people before they got their start in life. But I wish we would stop devoting billions and our best minds to extending lives and allowing people to have their cake and eat it too. The world is vastly overpopulated! People should have to suffer the consequences of their bad choices. Concentrate on eliminating malaria in Africa, not helping fat rich people stay alive.

    • Expanded_Consciousness

      Don’t be a death-lover. Conquering genetics will probably cure cholesterol and malaria diseases. If reducing the population is your only concern, then you wouldn’t want to cure malaria.

    • brettearle

      You may not think that your attitude is elitist.

      But your attitude most certainly is elitist.

      Everybody has the right to live, for as long as possible–regardless of how you might feel about their lifestyle.

      I don’t simply feel sorry for the people who are overweight. 

      But I feel sorry, for you, as well.

    • Wm_James_from_Missouri

      Meg, I think your philosophy on the subject of immortality is faulty. Over population as always been a result of birth rate versus death rate. If we were to live forever, we would not need to have children. Just because something as existed up to some point in time does not mean that it must exist for all time.

  • Steve Harris

    If this mutation increases the effectiveness of the liver in removing LDL cholesterol from the blood, do we know if there are long-term effects on the liver?

  • brettearle

    The threshold for MIs can vary from patient to patient.

    It may be that cholesterol levels in one patient can work synergistically with other factors–such that lowering already reasonably low cholesterol might, nevertheless, be a good idea.

  • Lorna Lippes

    After reading  Is Sugar Toxic by Gary Taubes, I stopped eating sugar. In one month my Triglycerides went from 79 to 41. What does that say?

    • jm1951

      It says your triglyceride level was well within the normal range to start with (“normal” defined as <150 mg/dL), and now your TG level is even lower.

    • Markus6

      I also read some of Taubes stuff and cut way back on carbs while eating more of other foods (meat, fat, veggies). Lost weight to the point where had to push myself (in a pleasant way) to keep my weight up. Also, it appeared to solve an annoying problem of feeling bloated.

      Anecdotes like yours and mine are cute, but hardly science. What I liked about Taubes is that he did his homework to analyze real studies. And particularly impressive was his explanations of the biology of eating, which go well past the usual dumb analogies and simplistic Michael Pollen statements. 

      Anyway, congrats.

      • MITBeta

        Put a lot of these N=1 anecdotes together and you find that there must be something to it…

  • homebuilding

    In the meantime, check your statin medication at askapatient.com and check on the experience of others 
    using the drug.

    Lots and lots of side effects–surprisingly so

    It’s a safer bet to choose your parents well.

    I wonder how long the super low cholesterol folks are living (and their relatives)  Since they might feel rather certain that they weren’t going to die of an MI, do they take various health risks?

  • Trudie

    I do not believe diet has much to do with any of this..my mother in law ate low fat diet and excersised her whole life..way before it was fashionable..she had heart disease required surgery her cholestral and LDL was extremly high…my husband is in the same boat…genetics has way more to do with this..I eat whatever I want and my HDL is 36 and Cholesteral is 98…no heart disease in my family..look at all the really healthy people who have died of heart disease…Jim Fixx comes to mind..

    • MITBeta

      Have you considered the idea that despite what “conventional wisdom” suggests, not eating enough fat and eating too much “heart healthy” grains could be causing heart disease?  Whereas you “eat whatever (you) want” and are healthy?

  • brian copeland

    Assuming the fast food culture remains and thrives in our future eating habits, would the doctors suppose that over a significant period of time evolution would grant our descendants with the mutant gene? That is, those without the gene and relying on McDonalds for their nutrition would die off.

  • ShawnMarieF

    I have been searching for information on low cholesterol for months and it is IMPOSSIBLE to find.  My LDL is 15 and the highest it’s ever been in the past 6 years is 48!  My biggest concern has been is there ever a “too low” when it comes to LDL.  

    • sickofthechit

       Are you an aerobics instructor in Texas?

  • 1MaggiePorter

    How do your guests feel about the questioning by Jonny Bowden & Stephen Sinatra who call cholesterol THE GREAT CHOLESTEROL MYTH, in their book by the same name, stating that addressing the focus on cholesterol is a minor role and has caused us to neglect what they call the real causes of heart disease.

  • gemli

    The guests are quite open and knowledgeable when it comes to complex biochemistry, but they start to babble and sputter incoherently when someone asks about the cost.  One guest said, basically, it’s whatever the market will bear.  No one objects to drug companies making a fair return on their investment, but when a heart attack is cheaper to manage than the cost of the drug to prevent one, insurance companies are going to to look at their bottom line.  All this while the Times reported recently that antibiotics to treat resistant bacterial infections are not being developed because drug companies can’t reap sufficient profits. This “your money or your life” strategy is not consistent with the  promise of living in a modern, scientifically advanced country.

    • http://www.facebook.com/futo.buddy Futo Buddy

      actually that’s the big impediment to genetic medicine.
      it offers to cure diseases very cheaply. modern pharmaceutical medicine makes so much profit because it does not seek to cure things but to treat them. its a much better  model if making money is the goal

  • HonestDebate1

    I’m not sure if this relates but it’s cool. We have a horse that had wart like growths on multiple places of his body, they’re called sarcoids but I forget which kind of sarcoids they are. They just come back if they are surgically removed. We tried a new treatment that was successful. The vet removed a tumor, froze it in liquid nitrogen then surgically implanted 5 separate tiny pieces of it in the horses neck just under the skin. It took several months, almost a year, but the tumors all disappeared.

    • sickofthechit

       Way Cool!

    • BostonDad

       No, but still cool !  Benign tumor growths can be dealt with by periodic resections or immunizing with the killed growth as the vet did.  Unfortunately, malignant tumors have gotten past the stage when they respond to simple immunization.  There are multiple promising ways to get round this ‘tumor tolerance’ with more powerful vaccines in development.
      Back to genetic approaches to cholesterol:  that could be “way cool” too !  Meanwhile, keep exercising, eating sensibly, if needed take LOW DOSE aspirin &/or statins as directed by a physician, and hang in there !

  • tbphkm33

    Eating right and exercise already holds The Secret To The better Cholesterol levels. … Although, I agree, some is dependent upon genetics. 

  • sharlyne1

    i’m still waiting for a “fat” pill…

  • http://www.facebook.com/stacey.rossi1 Stacey Rossi

    Your guest appears very biased against preventive measures to reduce health risks. This doctor, like Dr. Offit, does not seem open and willing to given due consideration to non-pharmaceutical alternatives. Certainly, there are some patients with homogygous genetic mutations (predispositions TOWARD atheroschlerotic buildup as opposed to the show’s subject of biomarkers AGAINST buildup) who cannot reverse cardiovascular disease by diet, exercise, aspirin and supplements alone, but those with heterogygous genetic mutations (lower risk but still at risk) absolutely can reverse atheroschlerosis not only with statins (which I don’t approve of except as an emergency last resort until one can replace them with natural remedies) but with lifestyle, diet, exercise, aspirin, and supplements. 

  • markian_s

    On Point,

    Thank you for taking on an interesting, important and potentially game changing science topic.  You do a good job of handling science topics and wish you would include more of them.

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