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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 POLG2 were 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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SLC25A4 and C10ORF2 mutations in autosomal dominant progressive external ophthalmoplegia Kyung-Pil Park ,Hyang-Sook Kim ,Eun-Sook Kim ,Young-Eun Park ,Chang-Hoon Lee ,Dae-Seong Kim pp.25-30

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참고문헌 (23건) : 자료제공( 네이버학술정보 )

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번호 참고문헌 국회도서관 소장유무
1 DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. In: Pagon RA, Bird TC, Dolan CR, Stephens K. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. 미소장
2 Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995;242:304-312. 미소장
3 An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. 네이버 미소장
4 Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance 네이버 미소장
5 Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001;28:223-231. 미소장
6 Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-212. 미소장
7 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. 네이버 미소장
8 A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions 네이버 미소장
9 Large Scale Single Deletion of Mitochondrial DNA in Chronic Progressive External Ophthalmoplegia 네이버 미소장
10 Molecular Diagnosis for Mitochondrial DNA Aberrations in Chronic Progressive External Ophthalmoplegia 소장
11 Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA 소장
12 Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. 네이버 미소장
13 Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. 네이버 미소장
14 Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, et al. The Human Gene Mutation Database: 2008 update. Genome Med 2009;1:13. 미소장
15 A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions 네이버 미소장
16 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 네이버 미소장
17 OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. 네이버 미소장
18 A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. 네이버 미소장
19 The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function. 네이버 미소장
20 TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. 네이버 미소장
21 Reconstitution of a minimal mtDNA replisome in vitro. 네이버 미소장
22 Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, et al. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLErelated dominant disease. Am J Med Genet A 2009;149A:861-867. 미소장
23 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. 네이버 미소장

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