Why Mutants Might Save My Life


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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