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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

Guests

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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