WILTIMS #84: Mito-what?

...two freshmen high schoolers in a junior year biology class did a genetic disease report on a strange and very rare set of diseases called mitochondrial disorders. They did research using resources to which few had access because one of the kids' families was affected by this disease. Whereas his friend had always wanted to be a doctor, the kid wouldn't decide to go into medicine for several years. Little did he know that one day he would be writing in third person at medical school.

Mitochondrial diseases didn't get me interested in medicine per se, but they did turn me on to biology and set me down this path. In the years since I first investigated their peculiarities, my understanding has grown alongside that of the biomedical community. It turns out mitochondrial diseases aren't as rare as we once thought, and may still be greatly underestimated due to the difficulty that comes with diagnosing them. That's why it was so exciting that our school invited a guest lecturer to give an hour and a half long talk on mitochondrial genetics and diseases. Now 200 soon to be doctors will think of mitochondrial diseases a bit sooner in their differential diagnoses.

TIL: Azidothymidine (AZT) was the first approved HIV medication and along with other drugs that work by the same mechanism, it has the side effect of causing transient mitochondrial diseases. AZT targets the DNA reverse transcriptase of the HIV, disrupting viral replication.

Though it does not affect the nuclear replication machinery, AZT has an extremely high affinity to the DNA polymerase utilized my mitochondria. Patients thus develop all the symptoms of mitochondrial dysfunction (such as myopathy and lactic acidosis) while having this life-saving drug administered. If the side effects are severe enough, the patient may be taken off the drug, resulting in rapid recovery of mitochondrial DNA expression.