Air date: Wednesday, March 21, 2012, 3:00:00 PM Timedisplayed is Eastern Time, Washington DC Local Category: Wednesday Afternoon Lectures Description: The Greek myth of the giant Prometheus stealing fire from the Olympian gods and giving it to humans, and the gods' "Trojan horse" gift to Prometheus of the beautiful but incorrigibly curious Pandora neatly symbolizes the symbiotic origin of mitochondrial DNA (mtDNA) and its role in human health and pathology (including aging). I will review our relatively recent awareness of mtDNA and our even more recent discovery of its important role in human pathology. The first two pathogenic mutations in mtDNA were reported in 1988: 24 years later, over 200 point mutations and innumerable deletions have been associated with an extraordinary variety of human disorders, most of them multisystemic ("mitochondrial encephalomyopathies") but some tissue-specific (for example, mitochondrial myopathies). After a brief reminder of the unique rule! s of mitochondrial genetics, I will propose a genetic classification of the mitochondrial disorders and provide examples of different mtDNA-related diseases. As a myologist by training, I feel obliged to stress the importance of the muscle biopsy in our diagnostic approach to mitochondrial diseases. As mtDNA mutations are so common, it is important to recognize which are pathogenic and which are neutral polymorphisms. I will, therefore, review and provide examples of the "canonical" criteria of mtDNA ...
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