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タイトル
  • en Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
作成者
アクセス権 open access
権利情報
  • en The original publication is available at www.springerlink.com
主題
  • Other en Progressive external ophthalmoplegia
  • Other en Deoxyribonucleic acid polymerase gamma gene
  • Other en Parkinsonism
  • Other en Mitochondria
内容注記
  • Abstract en Mutations in the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1) and DNA polymerase gamma (POLG) genes were reported in patients with progressive external ophthalmoplegia and parkinsonism. However, the genotype-phenotype correlation and pathophysiology of these syndromes are still unknown. In order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families. In results, we identified a compound heterozygous POLG substitutions, c.830A>T (p.H277L) and c.2827C>T (p.R943C) in one of the families. These two mutations in the coding region of POLG alter conserved amino acids in the exonuclease and polymerase domains, respectively, of the POLG protein. Neither of these substitutions was found in the 100 chromosomes of ethnically matched control subjects. In the other family, no mutations were detected in any of the three genes and the whole mitochondrial genome in the blood sample, although mitochondrial DNA deletions were observed in the muscle biopsy sample. Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes.
出版者 en Springer-Verlag
日付
    Issued2011-07
言語
  • eng
資源タイプ journal article
出版タイプ AM
資源識別子 HDL http://hdl.handle.net/2115/49690
関連
  • isVersionOf DOI https://doi.org/10.1007/s00415-011-5936-x
  • PMID 21301859
収録誌情報
    • PISSN 0340-5354
    • EISSN 1432-1459
    • NCID AA00703276
      • en Journal of neurology
      • 巻258 号7 開始ページ1327 終了ページ1332
ファイル
    • fulltext yabe_JN.pdf
    • 351.47 KB (application/pdf)
      • Issued2011-07
コンテンツ更新日時 2023-07-26