Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases.
10.3858/emm.2010.42.6.046
- Author:
Byung Ok CHOI
1
;
Jung Hee HWANG
;
Eun Min CHO
;
Eun Hye JEONG
;
Young Se HYUN
;
Hyeon Jeong JEON
;
Ki Min SEONG
;
Nam Soo CHO
;
Ki Wha CHUNG
Author Information
1. Department of Neurology, Ewha Womans University, School of Medicine, Ewha Medical Research Institute, Seoul 158-710, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
DNA, mitochondrial;
MELAS syndrome;
MERRF syndrome;
point mutation
- MeSH:
Adolescent;
Adult;
Amino Acid Sequence;
Asian Continental Ancestry Group/genetics;
Base Sequence;
DNA Mutational Analysis;
DNA, Mitochondrial/analysis/*genetics;
Female;
Humans;
MELAS Syndrome/diagnosis/*genetics;
MERRF Syndrome/diagnosis/*genetics;
Male;
Middle Aged;
Molecular Diagnostic Techniques;
Pedigree;
Polymorphism, Single Nucleotide;
Sequence Homology;
Young Adult
- From:Experimental & Molecular Medicine
2010;42(6):446-455
- CountryRepublic of Korea
- Language:English
-
Abstract:
Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean unrelated families (or isolated patients) with MELAS or MERRF. In particular, the mtDNA sequences were completely determined for 49 patients. From the mutational analysis of mtDNA obtained from blood, 5 confirmed pathogenic mutations were identified in 17 families, and 4 unreported pathogenically suspected mutations were identified in 4 families. The m.3243A>G in the tRNA(Leu(UUR)) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNA(Lys) of 4 MERRF families. Most pathogenic mutations showed heteroplasmy, and the rates were considerably different within the familial members. Patients with a higher rate of mutations showed a tendency of having more severe clinical phenotypes, but not in all cases. This study will be helpful for the molecular diagnosis of mitochondrial diseases, as well as establishment of mtDNA database in Koreans.
