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

J Child Neurol. 2012 Mar;27(3):398-401. doi: 10.1177/0883073811420870. Epub 2011 Nov 22.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • DNA, Mitochondrial