GENET301 Lecture Notes - Lecture 10: Bone Density, P53, Kyphosis
23 Sep 2016
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A large number of di erent mtdna mutations identi ed that cause human disease (deletions, point mutations) (cid:12254) Blindness, deafness, dementia, movement disorders, general weakness, and heart/liver/kidney function disorders. Observe a random segregation of the disease in the children. Di erent tissues are a ected to varying degrees relates to the dependence of the tissue on oxphos ex. central nervous system --> skeletal muscle ---> heart ----> liver. Failure of a certain tissue or group of cells occurs only when a low threshold level of wt mtdna is reached (cid:12254) With age, tissues in a disease-carrying individual may become reduced in the number of wt mtdna molecules. Two possible mechanisms (both could contribute to the problem): Many studies have shown increased mtdna mutations with age. Has been suggested that normal aging is in uenced by mtdna mutations. A theory rst proposed by denham harman in the 1950"s.
