Types

 mitochondrial respiratory chain anomalies - oxidative phosphorylation anomalies - OXPHOS disorders
 defects of transport through the mitochondrial membrane
 defects of substrates utilization
 defects of Krebs cycle
 fatty acid oxydation anomalies
 urea cycle anomalies
 carnitine palmityl-transferase pyruvate dehydrogenase
 mitochondrial DNA depletion syndrome

Localization

 mitochondrial hepatopathies
 mitochondrial myopathies
 mitochondrial encephalopathies
 mitochondrial encephalomyopathies
 multiple symmetrical lipomatosis
 Barth Syndrome

• down-regulation of Bid protein in parallel to the genetic deficiency in cardiolipin remodeling

Etiologies

 punctual mutations of the mitochondrial genome
 deletions of the mitochondrial genome
 nuclear mutations of genes encoding electron transport proteins
 nuclear mutations of genes encoding mitochondrial enzymes

See also

 mitochondrial protein synthesis diseases
 mitochondrial respiratory chain diseases

References

 Rotig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont JP, Munnich A. Molecular diagnostics of mitochondrial disorders. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):129-35. PMID: #15576044#

 Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005 May;6(5):389-402. PMID: #15861210#

 Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. PMID: #12928485#

 Rotig A, Munnich A. Genetic features of mitochondrial respiratory chain disorders. J Am Soc Nephrol. 2003 Dec;14(12):2995-3007. PMID: #14638899#