PART 3: Genes, the Environment, and Disease
e18 Mitochondrial Dna and Heritable Traits and Diseases
 | Figure e18-1 Dual genetic control and multiple organ system manifestations of mitochondrial disease. (Reproduced with permission from DR Johns: N Engl J Med 333:638, 1995.) |
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 | Figure e18-2 Maternal inheritance of mtDNA disorders and heritable traits. Affected women (filled circles) transmit the trait to their children. Affected men (filled squares) do not transmit the trait to any of their offspring. |
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 | Figure e18-3 Heteroplasmy and the mitochondrial genetic bottleneck. During the production of primary oocytes, a selected number of mitochondrial DNA (mtDNA) molecules are transferred into each oocyte. Oocyte maturation is associated with the rapid replication of this mtDNA population. This restriction-amplification event can lead to a random... |
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 | Figure e18-4 Mutations in the human mitochondrial genome known to cause disease. Disorders that are frequently or prominently associated with mutations in a particular gene are shown in boldface. Diseases due to mutations that impair mitochondrial protein synthesis are shown in blue. Diseases due to mutations in protein-coding genes are... |
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 | Figure e18-5 Cytochrome c oxidase deficiency in mitochondrial DNA–associated disease. Transverse tissue sections that have been stained for cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) activities sequentially, with COX-positive cells shown in brown and COX-deficient cells shown in blue. |
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 | Figure e18-6 Clinical and laboratory investigation of suspected mtDNA disorder. CSF, cerebrospinal fluid; ECG, electrocardiogram; EEG, electroencephalogram; EMG, electromyogram; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes; MERFF, myoclonic epilepsy with ragged red fibers; LHON, Leber hereditary optic... |
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 | Figure e18-7 Multiple pathways of DNA damage and aging. Mitochondrial DNA damage and aging. Multiple factors may impinge on the integrity of mitochondria that lead to loss of cell function, apoptosis, and aging. The classic pathway is indicated with blue arrows; the generation of ROS (superoxide anion, hydrogen peroxide, and hydroxyl... |
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 | Figure e18-8 Possible approaches for prevention of mtDNA disease. A. No intervention: Offspring′s mutant mitochondrial DNA load will vary greatly. B. Oocyte donation: currently permitted in some constituencies but limited by the availability of oocyte... |
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