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It takes one base.
One small, almost insignificant-seeming little base among billions in a DNA strand, in one particular gene, on one particular chromosome, is all it takes to doom a hapless individual to a short lifetime of agony. Bone-forming, muscle-ossifying, jaw-locking agony that turns your entire body into a screaming statue of bone and pain.
Never underestimate the power of how much your genetics can screw you over.
Fibrodysplasia ossificans progressiva (Also known as FOP, because, really, the full name is a mouthful) is the genetic equivalent to Wolverine’s healing factor gone wrong. It’s one of the most rare diseases in the world, affecting about one in two million people.
To explain how it works, I’ll give a bit of back-story into the world of genetics for you non-biology majors.
The human body is basically one big ol’ sack of protein with a bunch of minerals mixed in– the calcium and other stuff that makes up our bones. Our genes are like directions for making that protein.
DNA is made up of a bunch of base pairs- billions of them, in fact– that tell your body to make protein. This protein makes up cells and enzymes, which make up muscles, eyeballs, your brain– all that jazz.
When something in the DNA is messed up, like a base pair getting switched out, the protein also gets messed up. Usually there’s a backup against this– cells that make faulty protein or that don’t divide correctly, like cancer cells, are usually destroyed by the body before they can do anything.
However, sometimes an error slips by: a faulty protein is made. In the case of FOP, the protein in question is a special kind of receptor called a kinase receptor, which tells certain cells to become bone-making cells (osteocytes).
Usually, the body keeps this receptor in check by blocking it off with an inhibitor, which basically latches onto the receptor and makes it silenced around cells that the body doesn’t want to become bone-making cells.
However, the kinase receptor is messed up. It still works, but the way that the protein receptor is made makes it so that the inhibitor can’t latch onto it properly. It’s like a toothpaste tube that doesn’t fit a cap properly, and toothpaste spills everywhere.
However, in this case it’s not so much toothpaste as osteocyte differentiation.
Without anything to stop it, the kinase goes nuts. It tells ALL the cells in your muscles and connective joints to turn into osteocytes. The osteocytes, in turn, make bone.
This can only end well.
Babies born with the disease look fairly normal, save for somewhat malformed toes that seem innocuous at first. However, the disease manifests itself later on in life– usually when the person affected by it breaks a bone or suffers an injury to the muscle.
What starts out as a needle jab, a toe-stubbing or seemingly light injury turns into something out of a horror movie. The faulty kinase tells the cells trying to repair the injury to turn into osteocytes. The area of the injury soon hardens as muscle turns into bone– which, as you probably correctly assume, is incredibly painful.
There is no way to reverse the ossification. Using surgical methods to try and cut out the bone only results in in more bone being formed– a vicious circle that only continues throughout the individual’s life.
The most notable case of FOP is that of Harry Eastlack (1933-1973) who lived to the ripe old age of 39. He first noticed he had the disease as a young child when he broke his leg, his knee joints fusing as the bone healed.
By the time he died, his entire body had ossified. Eastlack had to be fed through a tube because his his jaw had fused shut, and he could only communicate by moving his lips.
Eastlack opted to donate his body to science, which has allowed for extensive study and a more thorough understanding of the disease. His skeleton is currently on display at the Mutter Museum in Philadelphia, viewable for all to be horrified by.
So, dear readers, next time you lament the fact that you weren’t born with blue eyes, keep in mind that it could’ve been way, way worse.
Marlese Lessing is a staff writer for The Daily Campus. She can be reached via email at email@example.com. She tweets @marlese_lessing.