Mitochondrial diseases: a nosological update
- 1 April 2007
- journal article
- review article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 115 (4), 211-221
- https://doi.org/10.1111/j.1600-0404.2006.00777.x
Abstract
Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders caused by defects in the mitochondrial genome (sporadic or maternally-inherited) from disorders caused by defects in the nuclear genome (autosomally-inherited). We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge.Keywords
This publication has 100 references indexed in Scilit:
- Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External OphthalmoplegiaAmerican Journal of Human Genetics, 2006
- Disruption of Fusion Results in Mitochondrial Heterogeneity and DysfunctionJournal of Biological Chemistry, 2005
- Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?Neuroscience Letters, 2004
- Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic studyThe Lancet, 2004
- The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNABiochemical Journal, 2004
- A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutationActa Neurologica Scandinavica, 2004
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophyNature Genetics, 2000
- Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 GeneBiochemical and Biophysical Research Communications, 2000
- Exercise Intolerance Due to Mutations in the CytochromebGene of Mitochondrial DNANew England Journal of Medicine, 1999
- Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxinNature Genetics, 1997