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- Title
Primer on mitochondrial disease: Biochemistry, genetics, and epidemiology.
- Authors
Sirrs, Sandra; O'Riley, Margaret; Clarke, Lorne; Mattman, Andre
- Abstract
Mitochondria are intracellular organelles that provide energy for cellular activities through a series of chemical reactions known as oxidative phosphorylation. The DNA inside mitochondria is inherited from the mother and is distinct from DNA inside the nucleus in its genetic code. The central role of mitochondria in cellular function means that dysfunction of mitochondria in any organ system can lead to widely disparate clinical presentations, as illustrated by Family A, a large family in British Columbia. Primary mitochondrial diseases are relatively common and affect up to 1 in 5000 people. Mitochondrial dysfunction secondary to other diseases is even more common and plays a role in Alzheimer disease and Parkinson disease and is also involved in the aging process. Treatment strategies are based on understanding the biochemistry of mitochondrial activity and can be applied in cases of both primary and secondary mitochondrial dysfunction.
- Subjects
MITOCHONDRIA; CHEMICAL reactions; PHOSPHORYLATION; DNA; GENETIC code
- Publication
British Columbia Medical Journal, 2011, Vol 53, Issue 4, p172
- ISSN
0007-0556
- Publication type
Article