PLEIOTROPY- A JURASSIC DINOSAUR? NOT QUITE But possibly a reason for those multi-symptom syndromes
So my kid thought it was a good name for a dinosaur, but actually it is a term used in genetics. Simply put by Wikipedia, "Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that code for a product that is either used by various cells or has a cascade-like signaling function that affects various targets." Are you kidding me, what the hell does that mean? Lets try that again. Basically if you have a mutation(oops in your genetic recipe book) in one gene it can cause a range of symptoms that can effect a multitude of systems. Conditions such as autism, marfans, albinism, and phenylketonuria(PKU) are all examples of pleiotropy. If you are familiar with any of these you know that there are several seemingly unlinked phenotypic traits(observable characteristics) that are present in these diseases that are all created by one gene. So with PKU you can have mental retardation, but you also have gait problems, stunted growth, and reduced skin pigmentation. All four symptoms would not logically seem to be created by one condition. But a gummed up code for one protein can be an ingredient in a lot of recipes throughout the body. Hence its effect is wide and broad across the body.
In conditions like the ones above that are subject to pleiotropy the symptoms that are experienced(phenotypic result) by the individual are so variable and widespread in the body that it becomes a diagnostic conundrum for a medical team. After an individual has had to go through the medical field gauntlet with a condition such as these one can leave feeling a bit stigmatized. The reason I bring all this up is, I think it can be comforting, and normalizing when you can hold onto something tangible, a scientific explanation for all this variability and seemingly confounding symptoms. Not all medical conditions can fit in a neat little box and pleiotropy is at least one of those cool scientific reasons why. Or it could be a cool name for a dinosaur as well.
Enjoy the science!