Mitochondrial DNA–Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers

• Published in: American journal of human genetics Vol. 79; no. 3; pp. 469 - 480
• Main Authors: Bua, Entela, Johnson, Jody, Herbst, Allen, Delong, Bridget, McKenzie, Debbie, Salamat, Shahriar, Aiken, Judd M.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.09.2006; University of Chicago Press; Cell Press; The American Society of Human Genetics
• Subjects: Aged; Aged, 80 and over; Aging; Aging - genetics; Biological and medical sciences; DNA, Mitochondrial - analysis; DNA, Mitochondrial - genetics; Electron Transport - genetics; Electron Transport Chain Complex Proteins - genetics; Electron Transport Complex IV - genetics; Female; General aspects. Genetic counseling; Genotype & phenotype; Humans; Male; Medical genetics; Medical sciences; Middle Aged; Mitochondria, Muscle - enzymology; Mitochondria, Muscle - genetics; Mitochondrial DNA; Muscle Fibers, Skeletal - chemistry; Muscle Fibers, Skeletal - cytology; Muscle Fibers, Skeletal - enzymology; Muscle, Skeletal - chemistry; Muscle, Skeletal - cytology; Muscle, Skeletal - enzymology; Musculoskeletal system; Mutation; Sequence Deletion; Succinate Dehydrogenase - genetics; Human; Deletion; Genetics; Mitochondrial DNA; Mutation; Striated muscle

Skeletal muscle–mass loss with age has severe health consequences, yet the molecular basis of the loss remains obscure. Although mitochondrial DNA (mtDNA)–deletion mutations have been shown to accumulate with age, for these aberrant genomes to be physiologically relevant, they must accumulate to hig...