Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF).

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.

• Authors: William R Yorns Jr, Ignacio Valencia, Aditya Jayaraman, Sudip Sheth, Agustin Legido, Michael J Goldenthal
• Journal: Journal of child neurology (J Child Neurol) Vol. 27 Issue 3 Pg. 398-401 (Mar 2012) ISSN: 1708-8283 [Electronic] United States
• PMID: 22114216 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial

Topics

• Child
• DNA Mutational Analysis (instrumentation, methods)
• DNA, Mitochondrial (analysis, genetics)
• Female
• Humans
• MERRF Syndrome (genetics)
• Mouth Mucosa