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Role of Mitochondrial DNA Mutations in Disease and Aging
Author(s) -
COTTRELL D. A.,
BLAKELY E. L.,
BORTHWICK G. M.,
JOHNSON M. A.,
TAYLOR G. A.,
BRIERLEY E. J.,
INCE P. G.,
TURNBULL D. M.
Publication year - 2000
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2000.tb06647.x
Subject(s) - mitochondrial dna , mitochondrion , cytochrome c oxidase , mitochondrial disease , biology , genetics , human mitochondrial genetics , genome , dna , mutation , gene
A bstract : Since Harman in 1972 first proposed a role in the process of aging for the mitochondrial genome, a wealth of evidence has been accumulated to support this theory. We discuss the hereditary mitochondrial DNA disorders, which we believe may give insight into both normal aging and neurodegenerative conditions. We then review the evidence for the role of mitochondrial DNA mutations in both aging and age‐related disorders and also discuss new approaches for investigating the mitochondrial genome at a single cell level, by observing the activity of the mitochondrial enzyme cytochrome c oxidase.