Mitochondrial DNA and Disease
- 7 September 1995
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 333 (10) , 638-644
- https://doi.org/10.1056/nejm199509073331007
Abstract
The mitochondrial encephalomyopathies are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria.1 Since mitochondrial dysfunction can affect virtually all organ systems (Figure 1), physicians in many specialties see patients with mitochondrial diseases. Despite a bewildering array of clinical manifestations (Table 1 and Table 2) and variations in the mode of onset, course, and progression of disease, many mitochondrial disorders share prominent systemic effects (Table 2) that contribute to their morbidity.Our understanding of the role of mitochondrial DNA in certain diseases has evolved rapidly since 1988, when the first mutations in mitochondrial DNA were . . .Keywords
This publication has 40 references indexed in Scilit:
- Mitochondrial EncephalomyopathiesArchives of Neurology, 1993
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993
- Structure and function of the mitochondrial genomeJournal of Inherited Metabolic Disease, 1992
- DISEASES OF THE MITOCHONDRIAL DNAAnnual Review of Biochemistry, 1992
- Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNAGenomics, 1989
- Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.Proceedings of the National Academy of Sciences, 1989
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988
- Biogenesis of MitochondriaAnnual Review of Cell Biology, 1988
- Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathiesNature, 1988
- Sequence and organization of the human mitochondrial genomeNature, 1981