Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

• Sato, Kazunori

• Yabe, Ichiro

• Yaguchi, Hiroaki

• Nakano, Fumihito

• Kunieda, Yasuyuki

• Saitoh, Shinji

• Sasaki, Hidenao

抄録

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.

収録刊行物

• Journal of neurology

  Journal of neurology 258 (7), 1327-1332, 2011-07

  Springer-Verlag

キーワード

• Progressive external ophthalmoplegia
• Deoxyribonucleic acid polymerase gamma gene
• Parkinsonism
• Mitochondria

詳細情報

• CRID: 1050282813983883264
• NII論文ID: 120004405523
• NII書誌ID: AA00703276
• ISSN: 14321459
• ISSN: 03405354
• HANDLE: 2115/49690
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
  • IRDB
  • CiNii Articles