Journal article
Buccal Swab Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF)
Journal of child neurology, v 27(3), pp 398-401
01 Mar 2012
PMID: 22114216
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
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Details
- Title
- Buccal Swab Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF)
- Creators
- William R. Yorns - St. Christopher's Hospital for ChildrenIgnacio Valencia - St. Christopher's Hospital for ChildrenAditya Jayaraman - Drexel UniversitySudip Sheth - Drexel UniversityAgustin Legido - St. Christopher's Hospital for ChildrenMichael J. Goldenthal - St. Christopher's Hospital for Children
- Publication Details
- Journal of child neurology, v 27(3), pp 398-401
- Publisher
- Sage
- Number of pages
- 4
- Grant note
- St Christopher Foundation St Christopher's Hospital for Children PHEC Creight Foundation
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000301794400015
- Scopus ID
- 2-s2.0-84858653227
- Other Identifier
- 991019168243104721
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InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Web of Science research areas
- Clinical Neurology
- Pediatrics