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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 354 - 360 (7page)
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초록· 키워드
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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.
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참고문헌 (23)
참고문헌 신청
Abu-Amero KK / 2005 / Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS / Ophthalmic Genet 26 : 31 ~ 6
Anderson S / 1981 / Sequence and organization of the human mitochondrial genome / Nature 290 : 457 ~ 65
Andrews RM / 1999 / Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA / Nat Genet 23 : 147 ~
Brown MD / 1997 / Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage / Am J Hum Genet 60 : 381 ~ 7
Carelli V / 2006 / Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees / Am J Hum Genet 78
Anderson S / 1981 / Sequence and organization of the human mitochondrial genome / Nature 290 : 457 ~ 65
Andrews RM / 1999 / Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA / Nat Genet 23 : 147 ~
Brown MD / 1997 / Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage / Am J Hum Genet 60 : 381 ~ 7
Carelli V / 2006 / Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees / Am J Hum Genet 78
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