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Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

Title
Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
Authors
Choi B.-O.Hwang J.H.Cho E.M.Jeong E.H.Hyun Y.S.Jeon H.J.Seong K.M.Cho N.S.Chung K.W.
Ewha Authors
최병옥
Issue Date
2010
Journal Title
Experimental and Molecular Medicine
ISSN
1226-3613JCR Link
Citation
vol. 42, no. 6, pp. 446 - 455
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
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 tRNALeu(UUR) was predominantly observed in 10 MELAS families, and followed by m.8344A>G in the tRNALys 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.
DOI
10.3858/emm.2010.42.6.046
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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