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A MELAS syndrome family harboring two mutations in mitochondrial genome

Title
A MELAS syndrome family harboring two mutations in mitochondrial genome
Authors
Choi B.-O.Jung H.H.Kim J.Eun M.C.Sun Y.C.Su J.H.Hyang W.L.Song J.K.Ki W.C.
Ewha Authors
최병옥이향운
SCOPUS Author ID
이향운scopus
Issue Date
2008
Journal Title
Experimental and Molecular Medicine
ISSN
1226-3613JCR Link
Citation
vol. 40, no. 3, pp. 354 - 360
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T > C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A > C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. Neither of these mutations was found in 205 normal controls. Both mutations were identified from the proband and his mother, but not his father. The patients showed cataract symptom in addition to MELAS phenotype. We believe that the 9957T > C mutation is pathogenic, however, the 13849A > C mutation is of unclear significance. It is likely that the 13849A > C mutation might function as the secondary mutation which increase the expressivity of overlapping phenotypes of MELAS and cataract. This study also demonstrates the importance of full sequencing of mtDNA for the molecular genetic understanding of mitochondrial disorders.
DOI
10.3858/emm.2008.40.3.354
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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