The DOI matches its Crossref record; 94 of the 94 references it cites were found in a registry or an index.
Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes: Basic Concepts, Clinical Phenotype, and Therapeutic Management of MELAS Syndrome
Abstract
Since the initial description almost 25 years ago, the syndrome of mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) has been a useful model to study the complex interplay of factors that define mitochondrial disease. This syndrome, most commonly caused by an A‐to‐G transition mutation at position 3243 of the mitochondrial genome, is typified by characteristic neurological manifestations including seizures, encephalopathy, and strokelike episodes, as well as other frequent secondary manifestations including short stature, cognitive impairment, migraines, depression, cardiomyopathy, cardiac conduction defects, and diabetes mellitus. In this review, we discuss the history, pathogenesis, clinical features, and diagnostic and management strategies of mitochondrial disease in general and of MELAS in particular. We explore features of mitochondrial genetics, including the concepts of heteroplasmy, mitotic segregation, and threshold effect, as a basis for understanding the variability and complicated inheritance patterns seen with this group of diseases. We also describe systemic manifestations of MELAS‐associated mutations, including cardiac, renal, endocrine, gastrointestinal, and endothelial abnormalities and pathology, as well as the hypothetical role of derangements to COX enzymatic function in driving the unique pathology and clinical manifestations of MELAS. Although therapeutic options for MELAS and other mitochondrial diseases remain limited, and recent trials have been disappointing, we also consider current and potential therapeutic modalities.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,636
Arginine metabolism: nitric oxide and beyond
WU, G., & MORRIS, S. M. (1998) · Biochemical Journal · doi:10.1042/bj3360001 · Cited by 2,811
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
Holt, I. J., Harding, A. E., & Morgan-Hughes, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,846
Pavlakis, S. G., Phillips, P. C., DiMauro, S., De Vivo, D. C., & Rowland, L. P. (1984) · Annals of Neurology · doi:10.1002/ana.410160409 · Cited by 1,198
van den Ouweland, J. M. W., Lemkes, H. H. P. J., Ruitenbeek, W., Sandkuijl, L. A., de Vijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., & Maassen, J. A. (1992) · Nature Genetics · doi:10.1038/ng0892-368 · Cited by 1,140
Luft, R., Ikkos, D., Palmieri, G., Ernster, L., & Afzelius, B. (1962) · Journal of Clinical Investigation · doi:10.1172/jci104637 · Cited by 981
Paternal Inheritance of Mitochondrial DNA
Schwartz, M., & Vissing, J. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020350 · Cited by 692
An enhanced MITOMAP with a global mtDNA mutational phylogeny
Ruiz-Pesini, E., Lott, M. T., Procaccio, V., Poole, J. C., Brandon, M. C., Mishmar, D., Yi, C., Kreuziger, J., Baldi, P., & Wallace, D. C. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkl927 · Cited by 646
Jenuth, J. P., Peterson, A. C., Fu, K., & Shoubridge, E. A. (1996) · Nature Genetics · doi:10.1038/ng1096-146 · Cited by 591
Estivill, X., Govea, N., Barceló, A., Perelló, E., Badenas, C., Romero, E., Moral, L., Scozzari, R., D'Urbano, L., Zeviani, M., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301676 · Cited by 550
Cited by
Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.177 · Cited by 607
Leber hereditary optic neuropathy: current perspectives.
McClelland, C., Meyerson, C., & Van Stavern, G. (2015) · Clinical Ophthalmology · doi:10.2147/opth.s62021 · Cited by 196
Metadata
- Authors
- Sproule, D. M., & Kaufmann, P.
- Venue
- Annals of the New York Academy of Sciences
- Publisher
- Wiley
- Published
- 2008-10
- Volume
- 1142
- Issue
- 1
- Pages
- 133-158
- ISSN
- 0077-8923 (ISSN-L)
- 1749-6632
- OpenAlex
- W2050254109
- Cited by
- 351
- References
- 94
- FWCI
- 6.70
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes: Basic Concepts, Clinical Phenotype, and Therapeutic Management of MELAS Syndrome. https://app.cochat.ai/papers/10.1196/annals.1444.011
- The paper
- Sproule, D. M., & Kaufmann, P. (2008). Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes: Basic Concepts, Clinical Phenotype, and Therapeutic Management of MELAS Syndrome. Annals of the New York Academy of Sciences. https://doi.org/10.1196/annals.1444.011
Data sources
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).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
