October 30, 2009

The Mito Mystery

Brownout: The Mitochondria Detective work Gets a Little Easier

“The mitochondria are like engines,” he says. “When a car engine doesn’t work right, it smokes.” Similarly, malfunctioning mitochondria produce nasty gunk Enns refers to as “biochemical smoke.”

I love little pictorial metaphors that just make sense.

The article delves into the medical mystery of a young girl who is "anorexic" despite a healthy appetite who had two siblings who passes away with some sort of muscular dystrophy. They get referred to a mitochondrial specialist.

But sometimes, for a single patient, a glimmer of hope breaks through the fog. Veronica Segura recently learned what’s at the root of her disease: a mutation in the cellular instructions for building the enzyme thymidine kinase 2, which plays a key role in synthesizing new mitochondrial DNA. Most important for Segura, a child must receive a bad copy of the gene from each parent to manifest disease. Segura’s husband, Aurelio, doesn’t carry the disease gene, which means their little daughter will never suffer her mother’s mitochondrial illness.

The article ends on this happy note, but I am doubtful of its veracity.
It is my understanding that mitochondrial DNA are EXCLUSIVELY inherited by the mother, who provides ALL of the baby mitochondria as the egg donor -- the sperm mitochondria do not become a part of a zygote->baby...

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