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- Title
Buccal Swab Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF).
- Authors
Yorns, William R.; Valencia, Ignacio; Jayaraman, Aditya; Sheth, Sudip; Legido, Agustin; Goldenthal, Michael J.
- Abstract
The authors describe mitochondrial studies in a 6-year-old patient with a seizure disorder that can be seen in myoclonic epilepsy and ragged red fibers. Using a recently developed noninvasive approach, analysis of buccal mitochondrial enzyme function revealed severe respiratory complex I and IV deficiencies in the patient. In addition, analysis of buccal mitochondrial DNA showed significant amounts of the common 5 kb and 7.4 kb mitochondrial DNA deletions, also detectable in blood. This study suggests that a buccal swab approach can be used to informatively examine mitochondrial dysfunction in children with seizures and may be applicable to screening mitochondrial disease with other clinical presentations.
- Subjects
MITOCHONDRIAL DNA abnormalities; MITOCHONDRIAL pathology; SURGICAL swabs; INFANTILE spasms; SPASMS; PATIENTS
- Publication
Journal of Child Neurology, 2012, Vol 27, Issue 3, p398
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073811420870