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Mitochondrial DNA mutations in the pathogenesis of human disease

Chinnery, Patrick F., Turnbull, Douglas M.·2000·Molecular Medicine Today
DOI 10.1016/s1357-4310(00)01805-0
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Abstract

The coding sequence for the human mitochondrial genome (mtDNA) was published in 1981. Within a decade, the first pathogenic mtDNA mutations were described in humans with sporadic and maternally inherited disease. The last ten years has seen a profusion of reports describing new pathogenic mutations associated with a diverse range of clinical phenotypes. Although we have seen great advances in our understanding of the molecular mechanisms involved in the pathogenesis of mtDNA disease, we are only just beginning to tackle some of the more difficult questions. In this review we describe recent advances in our understanding of mtDNA disease and highlight ways that this knowledge might lead to novel therapies in the future.

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  • Both inherited and acquired mutations in mtDNA cause severe diseases including LHON, Leigh's syndrome, MELAS, MERRF, NARP and MILS, Kern-Sayer's syndrome, and reversible respiratory chain syndrome.

    “Both inherited and acquired mutations in mtDNA cause severe diseases, including LHON, Leigh’s syndrome, MELAS, MERRF, NARP and MILs, Kern-Sayer’s syndrome, and reversible respiratory chain syndrome (reviewed in 2).”

    From Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes (2020) · cites this paper as [2]

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Metadata

Authors
Chinnery, P. F., & Turnbull, D. M.
Venue
Molecular Medicine Today
Publisher
Elsevier BV
Published
2000-11
Volume
6
Issue
11
Pages
425-432
ISSN
1357-4310
DOI
10.1016/s1357-4310(00)01805-0
Cited by
75
References
3
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

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