Journal
JOURNAL OF CHILD NEUROLOGY
Volume 27, Issue 3, Pages 398-401Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073811420870
Keywords
myoclonic epilepsy and ragged red fibers (MERRF); buccal; mitochondrial
Categories
Funding
- Creight Foundation
- St Christopher's Hospital for Children PHEC
- St Christopher Foundation
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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.
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