Mitochondria Gone Wild

We had a clinical presentation today from Richard Hass, a mitochondrial disease expert with UCSD’s Mitochondrial and Metabolic Disease Center. It was tough. He presented case after case of doomed little children who basically all die within a few years of an acute metabolic crisis caused by their mutated mitochondria or electron transport chain enzymes. Basically, for some reason mutated mitochondria tend to out-reproduce wild type (“normal”) mitochondria and so a person with these mutations tends to develop a higher ratio of mutated to wild type within their cells… and especially within cells of tissues that exercise a lot or continually turn over.

And then he brought in a little toddler with Leigh’s Syndrome, which is basically a rapid, fatal degenerative disease. The kid had undergone several acute episodes, had major neurodegenerative damage, was weak, not independently mobile, and spasmodic. Yet he was happy as a pig in shit to be out of his convalescent room and performing in front of a room full of people. Although there are several highly experimental treatments for mitochondrial diseases that involve RNA silencing, gene splicing, and other speculative and risky treatments, none of them can help this nice little boy in time. Basically, he’s being treated with mostly over-the-counter vitamin and mineral supplements, like Co-Q and B Complex, all precursors to functional elements of the electron transport chain. Basically what they sell in the back pages of those dodgy life extension magazines. It’s like being a doctor in the 19th century, basically prescribing like a naturopath. His parents were there and sometimes looked like they were losing it, and at other times were humourous. This made me very sad.

And there was an older woman, who had developed a different kind of mitochondrial diease that manifested in her 40s. As we age, our mitochondria accumulate more and more mutations but she seems to have been dealt a raw deal from birth. Her symptoms manifested as unusual lethargy and trouble keeping up with her friends’ exercise routines. This worried me because, let’s face it, who hasn’t felt this? But she also had certain eyelid-related features (“Betty Davis Eyes”) throughout her life.

Haas then explained an interesting hypothesis of his. He sees many athletes in their 40s whose drop off in performance is much more rapid than normal aging. He thinks it’s possible that strenuous exercise and a fitness regimen has encouraged the proliferation of mitochondria in these people and, unfortunately, their diseased mitochondria tend to reproduce faster, crowding out the others. When they are functioning aerobically, channelling electrons, everything’s cool. But when they slow down, or rest,their’s not enough throughput for these hyper-overgrown mitochondria networks and free radicals are produced as the system chokes like a bad engine, producing DNA damage that proliferates. It’s an interesting theory.

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