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: Min-Jung Kwon, Chang-Seok Ki, Ji-Youn Kim, Seung-Tae Lee, Jong-Won Kim, Sa-Yoon Kang
• Journal: Annals of clinical and laboratory science (Ann Clin Lab Sci) Vol. 41 Issue 4 Pg. 385-9 ( 2011) ISSN: 1550-8080 [Electronic] United States
• PMID: 22166510 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Probes
• DNA, Mitochondrial

Topics

• Base Sequence
• Biological Assay (methods)
• DNA Probes (metabolism)
• DNA, Mitochondrial (genetics)
• Gene Dosage (genetics)
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Multiplex Polymerase Chain Reaction (methods)
• Ophthalmoplegia, Chronic Progressive External (genetics)
• Sequence Deletion (genetics)