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
Dimauro S, Schon EA. Mitochondrial Disorders in the Nervous System. Annu Rev Neurosci. 2008 Mar 10; PMID: 18333761
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