title: Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO.
abstract: The percentage of common deletion of mitochondrial DNA (mtDNA) was determined quantitatively by a PCR-based, non-radioactive method in DNA extracted from formalin-fixed, paraffin-embedded skeletal muscle tissues from two patients with Kearns Sayre syndrome (KSS) and one with chronic progressive external ophthalmoplegia (CPEO). The method involved PCR cycle titration of wild-type and deleted mtDNA in parallel, staining of gel bands with the sensitive fluorescence dye SYBR Green I, and quantitation of intensity on a computer screen by the NIH image program. We determined 75% and 71% common deletion of mtDNA in the KSS patients and 35% in the CPEO patient.
authors.affiliation: Department of Biology, Taegu University, Kyungbuk Kyungsan-Si, South Korea. SangKim@biho.taegu.ac.kr
authors.forename: S H
authors.initials: SH
authors.lastname: Kim
authors.forename: J G
authors.initials: JG
authors.lastname: Chi
authors.forename: A
authors.initials: A
authors.lastname: Reith
authors.forename: B
authors.initials: B
authors.lastname: Kadenbach
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008297:Male; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D016612:Paraffin Embedding; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial