Why Mutants Might Save My Life

Oct. 30, 2013— -- Actually "save" is an overstatement. Prolong is better. Immortality would be great, I think, but that puts me into the realm of the comic book world. Let's not focus on the semantics. If I can get a few extra years then I'll take it.

Mutants, though, is a word that works. Not the knives in the knuckles type. No green skin, white eyes or magnetic powers. These are real mutants. Unlikely ones -- but real. They were discovered in the past decade or so and may not only save me but you too.

Read about the child who feels no pain.

The first is a young African American woman from Texas. Theoretically she shouldn't be alive or should be very sick—disabled at the least. But, she is fine. Actually she is great.

The second not-so-comic book hero is not so good. He's dead. He died a long time ago. His name is Giovanni Pomarelli from the small Italian Mountain village of Limone sur Garda. He and his descendants have something you and I don't have—a specific set of mutant genes.

Relentless Killer

Now me, I'm in the shallow end of the gene pool. I have something called hypercholesterolemia. That's a scientific term which, properly translated, means "you are screwed." If you have this condition you have got a lot of cholesterol, the gunk that clogs arteries and causes heart disease. My mother had sky high cholesterol and no heart disease. My dad had low cholesterol but serious heart problems. I got the combination of both—high cholesterol and a biological slip and slide to heart disease. No amount of turkey burgers or kale chips can change my destiny. That is, until the mutants appeared.

Mutant to the Rescue

Giovanni's descendants (about 35) have a much different destiny. They have a rare, unknown until recently, genetic protection against clogged arteries. Many of his family, I hear, eat whatever they want. Some smoke and I'll bet don't even know the recommendations of the American Heart Association. To make it all the more amazing they have bad numbers….hardly any "good" cholesterol or HDL. What they do have is something scientists call the ApoA-Milano protein. It's not normal. There's a spot in that wonderful protein DNA double helix (spot 173) that should be occupied by something called cysteine. Arginine is there instead. It's a mutant.

I've had several conversations with the experts hoping to be able to explain how this all works. I'll save you. They don't know exactly how it all works. The best explanation is the Pomarelli family has their own kind of good cholesterol. It prevents the bad stuff from hanging out in the blood vessels.

Scientists have figured out how to create the ApoA Milano protein. It was tried out in animals, folks in Italy and finally here in the United States. It's as close as they come to an arterial rotor-rooter--Drano for the Heart, to borrow a Time Magazine headline. Forty seven lucky patients finished the U.S. study in just six weeks. In that short amount of time this relentless disease went into reverse. Their arteries were measurably cleaner. The normally conservative scientific community described the results as "dramatic" and "surprising." "We were pretty stunned that in a six-week period of time we could see a significant reduction in the burden of plaque," says study leader Dr. Stephen Nissen. "It showed us the disease was far more malleable, more amenable to very rapid changes than we would have ever guessed."

Hope