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The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics

Chomyn, Anne (1998) The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics. American Journal of Human Genetics, 62 (4). pp. 745-751. ISSN 0002-9297. http://resolver.caltech.edu/CaltechAUTHORS:20111222-100052561

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Abstract

Of the ~50 mtDNA point mutations, reported so far, that cause disease in humans, ≥ 35 occur in tRNA genes (Schon et al. 1997). Of these, perhaps the best-studied is the A → G transition at position 8344 in the tRNA^(Lys) gene, the mutation that causes myoclonic epilepsy and ragged-red fiber syndrome (MERRF; Shoffner et al. 1990). This disorder is an encephalomyopathy characterized by myoclonic epilepsy, ataxia, and mitochondrial myopathy, with additional dysfunction, in some individuals, in tissues other than brain and skeletal muscle (Schon et al. 1997). Histological analysis of transverse sections of a MERRF patient’s skeletal muscle, stained with Gomori’s modified trichrome stain, reveals the presence of “ragged red fibers,” muscle fibers that exhibit peripheral blotchy, red patches that represent subsarcolemmal accumulations of mitochondria.


Item Type:Article
Related URLs:
URLURL TypeDescription
http://dx.doi.org/10.1086/301813 DOIUNSPECIFIED
http://www.sciencedirect.com/science/article/pii/S0002929707609628PublisherUNSPECIFIED
Additional Information:© 1998 by The American Society of Human Genetics. Received 6 February 1998; Accepted 16 February 1998. Available online 30 October 2007. Space limitations restricted the number of citations in this review. I apologize to those colleagues whose contributions I have been unable to acknowledge. I thank G. Attardi for helpful discussions and comments on the manuscript and for communicating unpublished results. I thank also the National Institutes of Health (grant GM11726) for support.
Funders:
Funding AgencyGrant Number
NIHGM11726
Subject Keywords:MERRF; Mitochondrial disease; Mutations mitochondrial
Record Number:CaltechAUTHORS:20111222-100052561
Persistent URL:http://resolver.caltech.edu/CaltechAUTHORS:20111222-100052561
Official Citation:Anne Chomyn, The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics, The American Journal of Human Genetics, Volume 62, Issue 4, April 1998, Pages 745-751, ISSN 0002-9297, 10.1086/301813.
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:28566
Collection:CaltechAUTHORS
Deposited By: Tony Diaz
Deposited On:09 Jan 2012 19:29
Last Modified:09 Jan 2012 19:29

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