title: 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: Section of Neurology, Department of Pediatrics, St Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors: William R
authors: WR
authors: Yorns
authors: Ignacio
authors: I
authors: Valencia
authors: Aditya
authors: A
authors: Jayaraman
authors: Sudip
authors: S
authors: Sheth
authors: Agustin
authors: A
authors: Legido
authors: Michael J
authors: MJ
authors: Goldenthal
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis / Q000295:instrumentation* / Q000379:methods; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000235:genetics*; D009061:Mouth Mucosa
chemical_list: D004272:DNA, Mitochondrial