title: Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO).
abstract: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy commonly caused by deleterious changes in the mitochondrial DNA (mtDNA). We describe a 45-year-old man who was referred to us for investigation of progressive ptosis. We performed a multiplex ligation-dependent probe amplification (MLPA) assay of mtDNA from muscle tissue and peripheral blood leukocytes, and followed up with gap-polymerase chain reaction (PCR) and direct sequence analysis. Results showed a deletion of a 4,407 bp segment in the mtDNA region, ranging from nucleotide position 8,577 in the MT-ATP6 gene to nucleotide position 12,983 in the MT-ND5 gene. To the best of our knowledge, this is the first report of a CPEO patient with a large novel deletion of mtDNA genetically confirmed by MLPA assay. MLPA can be a feasible platform for clinical laboratories to detect large deletion mutations in the mtDNA for suspected cases.
authors.affiliation: Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Min-Jung
authors.initials: MJ
authors.lastname: Kwon
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Ji-Youn
authors.initials: JY
authors.lastname: Kim
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Sa-Yoon
authors.initials: SY
authors.lastname: Kang
mesh_terms: D001483:Base Sequence; D001681:Biological Assay / Q000379:methods*; D015342:DNA Probes / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000235:genetics*; D018628:Gene Dosage / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004272:DNA, Mitochondrial