No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients

J Neural Transm (Vienna). 2015 May;122(5):731-2. doi: 10.1007/s00702-014-1295-y. Epub 2014 Aug 13.

Abstract

Abnormal hexanucleotide repeat expansion of C9ORF72 is known to cause neurodegenerative disorders such as frontotemporal dementia. Additionally, patients with psychotic symptoms are more likely to have abnormal hexanucleotide repeat expansion than are patients without them. We investigated the hexanucleotide repeat sizes of C9ORF72 in 466 Japanese schizophrenia patients. We found no abnormal hexanucleotide repeat expansion. In conclusion, C9ORF72 may not be responsible for schizophrenia susceptibility in the Japanese population.

MeSH terms

  • Asian People / genetics
  • C9orf72 Protein
  • DNA Mutational Analysis
  • DNA Repeat Expansion*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Proteins / genetics*
  • Schizophrenia / genetics*

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Proteins