Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

Neurobiol Aging. 2013 Apr;34(4):1311.e7-9. doi: 10.1016/j.neurobiolaging.2012.09.004. Epub 2012 Oct 22.

Abstract

The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame (C9orf72) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in Korean ALS patients, however, has not been reported. We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial (n = 8) and sporadic (n = 246) ALS and found that none of the patients had the expansion. The number of hexanucleotide repeats ranged from 2 to 11 in the 254 ALS patients without the expansion. Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / epidemiology*
  • Amyotrophic Lateral Sclerosis / genetics*
  • C9orf72 Protein
  • DNA Repeat Expansion / genetics*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Prevalence
  • Proteins / genetics*
  • Republic of Korea / epidemiology
  • Risk Factors

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Genetic Markers
  • Proteins

Supplementary concepts

  • Amyotrophic lateral sclerosis 1