Monday, June 11, 2007

Mitochondrial genetics   posted by p-ter @ 6/11/2007 06:58:00 PM

Most studies of the genetics of human traits focus on a specific disease phenotype, or some extreme of phenotypic variation that a clinician can call "pathological". Because of this disease-centric approach, the genetics of basic cellular processes often go unstudied in humans (I'm not kidding when I say some medical doctors and clinicians were resistant to the idea of looking at the genetics of gene expression, one of the most logical places to start understanding the cell). However, complex diseases are, as the name implies, complex; it's certainly of interest to study the various pathways involved in their aetiology in isolation.

It might not be the "sexiest" phenotype to look at, but this new paper, on the genetics of mitochondrial genome number, is an excellent example of such a "reductionist" approach. Variation in mitochondrial genome number and integrity is important in a number of human diseases, including common and expensive ones like Type II diabetes-- finding the genes involved in this phenotype will be an important part of any systems-level model of such diseases.