Mitochondrial DNA and genetic disease.
From their very beginning to the present day, mitochondria have evolved to become a crucial organelle within the cell. The mitochondrial genome encodes only 37 genes, but its compact structure and minimal redundancy results in mutations on the mitochondrial genome being an important cause of genetic disease. In the present chapter we describe the up-to-date knowledge about mitochondrial DNA structure and function, and describe some of the consequences of defective function including disease and aging.
Krishnan
Kim J
KJ
Mitochondrial Research Group, Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle NE2 4HH, UK.
Turnbull
Doug M
DM
D000375:Aging / Q000235:genetics; D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D054629:Genome, Mitochondrial / Q000235:genetics; D006801:Humans; D009154:Mutation
D004272:DNA, Mitochondrial