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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 446 - 455 (10page)
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초록· 키워드
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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, 5confirmed pathogenic mutations were identified in 17families, 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.
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참고문헌 (22)
참고문헌 신청
Andrews RM / 1999 / Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA / Nat Genet 23 : 147 ~
Ban M / 2008 / Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility / PLoS ONE 3 : e2891 ~
Bernier FP / 2002 / Diagnostic criteria for respiratory chain disorders in adults and children / Neurology 59 : 1406 ~ 1411
Byung-Ok Cho / 2008 / A MELAS syndrome family harboring two mutations inmitochondrial genome / Experimental and Molecular Medicine 40 (3) : 354 ~ 360
Cardaioli E / 1999 / Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 1
Ban M / 2008 / Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility / PLoS ONE 3 : e2891 ~
Bernier FP / 2002 / Diagnostic criteria for respiratory chain disorders in adults and children / Neurology 59 : 1406 ~ 1411
Byung-Ok Cho / 2008 / A MELAS syndrome family harboring two mutations inmitochondrial genome / Experimental and Molecular Medicine 40 (3) : 354 ~ 360
Cardaioli E / 1999 / Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 1
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