We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Mitochondrial DNA and disease.
- Authors
Dimauro, Salvatore; Davidzon, Guido
- Abstract
The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements. In this review, we summarize the distinctive rules of mitochondrial genetics (maternal inheritance, mitotic segregation, heteroplasmy and threshold effect), stress the relatively high prevalence of mtDNA-related diseases, and consider recent additions to the already long list of pathogenic mutations (especially mutations affecting protein-coding genes). We then discuss more controversial issues, including the functional or pathological role of mtDNA haplotypes, the pathogenicity of homoplasmic mutations and the still largely obscure pathophysiology of mtDNA mutations.
- Publication
Annals of medicine, 2005, Vol 37, Issue 3, p222
- ISSN
0785-3890
- Publication type
Journal Article
- DOI
10.1080/07853890510007368