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)
|