“It’s hard for many people to believe that there are extraordinary things inside themselves, as well as others.” — Elijah Price

I kind of liked the movie Unbreakable. You remember the story... Elijah Price, played by Samuel Jackson, is born with Osteogenesis Imperfecta, a rare disease where bones break easily. Since his bones are so brittle and frail at one extreme, Elijah wonders if maybe, just maybe, there might be someone “unbreakable” out there, at the other extreme. And like many fictional accounts, although heavily dramatized, this phenomenon is actually based on something we sometimes see in real life.

Genetic mutations. Random changes in our DNA. We’ve all got ‘em. Lots of them. In fact, the average human has over 3 million genetic mutations (or genetic variants, if you want a softer term). They can be bad ones, or good ones, or neither. Most of these 3 million variants are passed on from our parents, but about 70 completely “new” mutations are found in each individual human, that can then be passed on through generations… Survival of the fittest.

Genetic mutations are actually the driving force in the propagation of all species and certain variants give us a better chance at survival. And there is, believe it or not, a mutation that can bring you one step closer to being unbreakable.

A Mutation for Thick Bones. It’s found in what’s call the LPR5 gene, which plays a role in bone formation. Though not unbreakable, it is estimated that there are about 9 million people around the world carrying the LPR5 mutation, putting them at a lower risk of developing bone fragility conditions such as osteoporotic fractures… potentially adaptive in places or situations where you’re likely to get injured.

Resistance against HIV Infection. There are a bunch of other examples as well. If you’re short one letter of DNA at a certain position in the CCR5 gene, you’re less likely to get HIV. With this mutation, the virus can’t enter your T-cells as easily, and just gets flushed out through your blood stream without infecting you. It has been slowly increasing in population frequency, just as we would suspect. Darwin and his buddies.. they called it.

Malaria Protection. Another well-known example is the HbS gene that causes sickle cell anemia. It also happens to have the benefit of providing some resistance against malaria, which can, of course, be quite beneficial in certain areas. With one copy of the sickle cell gene, you’re generally not affected by anemia, but still have a survival advantage when it comes to malaria.

Brain Health & Alzheimer’s Protection. There is even a mutation called A67ST that leads to protection against Alzheimer’s by making an enzyme that cleaves the stuff that scary plaques are made of… giving you 40% less of that amlyoid junk in your brain. The mutation doesn’t only lower your risk of Alzheimer’s, but also tends to keep your brain sharp until a ripe old age.

While we still haven’t found a genetic mutation that lets you shoot laser beams out of your eyeballs, it’s worth keeping in mind that evolutionary genetics are unfolding right in front of us. And in spite of the scary-sounding name, not all mutations are bad.

Precision Medicine

A forward-looking journey through the use of genomic information to identify disease origins, develop targeted therapies, and improve outcomes.

    Reid J. Robison MD MBA

    Written by

    Eating Disorders Physician, Body Positivity Activist. Medical Director at Center for Change. Co-founded Anolinx, Tute Genomics, Polizzi Free Clinic.

    Precision Medicine

    A forward-looking journey through the use of genomic information to identify disease origins, develop targeted therapies, and improve outcomes.

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