The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS
Open accessAbstract
We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The mutation affects an evolutionarily conserved nucleotide and was heteroplasmic in muscle, leukocytes, and several autopsy tissues, including brain. The mutation was less abundant (<5%) in leukocytes from an asymptomatic sister and was not found in over 100 controls, thus satisfying accepted criteria for pathogenicity. Our report reinforces the concept of genetic heterogeneity in MELAS and confirms that MELAS can be due to mutations in polypeptide-coding mtDNA genes.
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Cites
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070
Cited by
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
“13514ANG) [114–117] and MT-ND1 mutations [118]) may also cause MELAS.”
BackgroundThe genetics and pathology of mitochondrial disease
Alston, C. L., Rocha, M. C., Lax, N. Z., Turnbull, D. M., & Taylor, R. W. (2017) · The Journal of Pathology · doi:10.1002/path.4809 · Cited by 451
Understanding mitochondrial complex I assembly in health and disease
Mimaki, M., Wang, X., McKenzie, M., Thorburn, D. R., & Ryan, M. T. (2012) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2011.08.010 · Cited by 420
Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395
Mitochondrial complex I: structure, function and pathology
Janssen, R. J. R. J., Nijtmans, L. G., Heuvel, L. P. V. D., & Smeitink, J. A. M. (2006) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-006-0362-4 · Cited by 276
Metadata
- Authors
- Santorelli, F. M., Tanji, K., Kulikova, R., Shanske, S., Vilarinho, L., Hays, A. P., & DiMauro, S.
- Venue
- Biochemical and Biophysical Research Communications
- Publisher
- Elsevier BV
- Published
- 1997-09
- Volume
- 238
- Issue
- 2
- Pages
- 326-328
- ISSN
- 0006-291X (ISSN-L)
- OpenAlex
- W2003218116
- Cited by
- 171
- References
- 2
- FWCI
- 1.69
- Type
- journal article
- Language
- en
- Open access
- hybrid
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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