The DOI matches its Crossref record; 52 of the 52 references it cites were found in a registry or an index.
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
Abstract
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA): A3243G or A8344G. Individuals who harbour these mutations carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence of a direct relationship between the level of mutation and mitochondrial respiratory chain function in vitro, it has been more difficult to demonstrate a clear correlation between clinical phenotype and the level of mutant mtDNA in vivo. To address this issue, we identified 245 individuals who carry either the A3243G or A8344G mutations, and studied the relationship between the incidence of specific clinical features and the level of mutant mtDNA in blood (for A3243G, n = 73; for A8344G, n = 25) and/or skeletal muscle (for A3234G, n = 111; for A8344G, n = 55). Within this study group, the frequency of key clinical features was significantly different for individuals harbouring the A3243G and A8344G mutations. For both mutations, there was a correlation between the frequency of the more common clinical features and the level of mutant mtDNA in muscle. In contrast, we did not observe a correlation between the frequency of clinical features and the level of mutant mtDNA in blood. Therefore, measurement of the level of the A3243G and A8344G mutations in muscle will allow the identification of individuals who are at risk of developing specific complications, thus improving the prognostic advice that can be given to patients and family members who carry these mutations.
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Cited by
Prevalence of mitochondrial DNA disease in adults
Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., & Turnbull, D. M. (2008) · Annals of Neurology · doi:10.1002/ana.21217 · Cited by 494
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Self-citationGreaves, L. C., Reeve, A. K., Taylor, R. W., & Turnbull, D. M. (2012) · The Journal of Pathology · doi:10.1002/path.3028 · Cited by 302
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients
Taivassalo, T. (2003) · Brain · doi:10.1093/brain/awg028 · Cited by 282
Random genetic drift determines the level of mutant mtDNA in human primary oocytes
Brown, D. T., Samuels, D. C., Michael, E. M., Turnbull, D. M., & Chinnery, P. F. (2001) · The American Journal of Human Genetics · doi:10.1086/318190 · Cited by 196
Metadata
- Authors
- Chinnery, P.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-10-01
- Volume
- 120
- Issue
- 10
- Pages
- 1713-1721
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2162466020
- Cited by
- 384
- References
- 52
- FWCI
- 3.83
- Type
- journal article
- Language
- en
- Open access
- closed
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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