Welcome to the new version of CaltechAUTHORS. Login is currently restricted to library staff. If you notice any issues, please email coda@library.caltech.edu
Published April 1998 | public
Journal Article

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

Chomyn, Anne


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.

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 I thank G. Attardi for helpful discussions and comments on the manuscript and for communicating unpublished results.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.

Additional details

August 22, 2023
October 24, 2023