Why Mutants Might Save My Life

Scientists search for clues in genetic flukes.

October 29, 2013, 5:31 PM

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."


That brings us to Texas. She's over 40, a mother of two and fit—an aerobics instructor. We will call her Tracy. That's not her real name but one assigned to her over time to protect her from people like me. Tracy's bad cholesterol or LDL level is 14. Mine hovers around 200. Now if you are familiar with cholesterol numbers you can now pick your jaw up off the floor. Fourteen is really, really low. In fact doctors will tell us that cholesterol is important. It's vital for normal brain development and growth. We need more than that. It's not anywhere near a normal number. And yet Tracy is fine. She's normal but for one small detail, or actually two, very rare genetic mutations.

It took researchers from Tracy's home state of Texas linking up with other scientists in Paris and Montreal—along with a fair bit of luck—to find the mutation and understand what it did. The gene is called PCSK9. In its mutated form studies have shown it can lower the risk of heart disease by more than half and maybe more.

In recent tests, PCSK9-based drugs, paired with a statin, reduced cholesterol by over 73 percent. There's a study in progress now that will determine whether the drug can reduce strokes or heart attacks and at what cost. Tracy, though, not only helped researchers discover the mutation but is living proof that it won't kill you.

Scientists have, for years, been trying to find genetic variations that cause a specific disease. The hypothesis was to find it and shut if off—disease cured. It all started with the tedious and expensive process of mapping the entire human genome. What they've discovered is we are all very complicated and unique. It's very rare to find one bad disease-causing gene in all or any of us. The search has been disappointing--no magic bullet genetic cure.

We are all Mutants

Tracy and Giovanni have shown scientists that there are specific mutations that can improve health. It's a new way to look at genetic differences. Mutations aren't all bad. It's what makes us, well us.

We are all mutants, in one way or another. So it's not just the genes we have in common that are important. It's our differences that make us better.

My mutation? No cancer in my father's family as far back as we can go. That's good.

I also met the Dalai Lama. At least I've got that going for me.

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