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Tuesday, October 11, 2005

Complexity, Part Deux

Leber's Hereditary Optic Neuropathy. Very rare.
A single base change in mitochondrial genes coding for subunits of complex I or cytochrome c [of the electron transport chain] results in decreased mitochondrial function and eventually bilateral vision loss in early adulthood.
So many of these biochemical disorders you learn about in first year involve tiny mutations, either inherited or unlucky enough to develop. Don't get me wrong, for these diseases to take effect requires a confluence of unlikely adverse events. The DNA repair mechanisms fail (unlikely), the cell's descendants proliferate and/or the same mutation occurs in multiple cells.

Still, it is amazing to think, I could run around changing nucleotides up and down the genome without any noticeable symptoms, but if I were to nail a base pair in the wrong region, just a single base, and it could be very bad news.

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