지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 25 - 30 (6page)
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초록· 키워드
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Background and Purpose:Progressive external ophthalmoplegia (PEO) with Mendelian inheritance is a heterogeneous group of diseases associated with multiple deletions of mitochondrial DNA (mtDNA), which results from the disturbed replication and maintenance of mtDNA secondary to the mutations of nuclear genes including POLG, SLC25A4, C10ORF2, POLG2, OPA1,and RRM2B. The aim of this study was to identify the genetic defects underlying the pathology and clinical features in two Korean kindreds with autosomal dominant PEO.
Methods:Two pathologically proven PEO patients with a clear autosomal dominant pattern of inheritance were selected. To exclude a large-scale rearrangement, a long-range polymerase chain reaction (PCR) was performed using DNA extracted from biopsied muscle tissue taken from each patient. All coding regions and exon-intron boundaries of POLG, SLC25A4, C10ORF2, and POLG2were amplified by PCR and directly sequenced.
Results:One patient showed multiple deletions of mtDNA on long-range PCR analysis, and two known heterozygous missense mutations in SLC25A4 (p.Asp104Gly) and C10ORF2 (p.Glu479Lys)were identified in each patient. The p.Asp104Gly mutation in SLC25A4 was identified in the patient with an early onset, slowly progressive, pure PEO phenotype, while the p.Glu479Lys mutation in C10ORF2 was identified in the other patient, with a late-onset disease and PEO plus phenotype.
Conclusions:Two mutations affecting nuclear genes were identified in Korean patients with autosomal dominant PEO. Further studies are necessary to identify the clear pathogenetic mechanisms and establish genotype-phenotype correlations in autosomal dominant PEO.
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참고문헌 (23)
참고문헌 신청
Agostino A / 2003 / Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) / Neurology 60 : 1354 ~ 1356
Amati-Bonneau P / 2008 / OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes / Brain 131 : 338 ~ 351
DiMauro S / / Mitochondrial DNA Deletion Syndromes in: GeneReviews Internet / University of Washington
Farge G / 2007 / The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function / Nucleic Acids Res 35 : 902 ~ 911
Goto Y / 1990 / Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies / J Neuro
Amati-Bonneau P / 2008 / OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes / Brain 131 : 338 ~ 351
DiMauro S / / Mitochondrial DNA Deletion Syndromes in: GeneReviews Internet / University of Washington
Farge G / 2007 / The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function / Nucleic Acids Res 35 : 902 ~ 911
Goto Y / 1990 / Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies / J Neuro
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