C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

Neurology. 2013 Nov 5;81(19):1719-21. doi: 10.1212/01.wnl.0000435295.41974.2e. Epub 2013 Oct 9.

Abstract

Discovery of intronic hexanucleotide repeat expansions of the C9ORF72 gene in a significant proportion of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)(1,2) was an important step for research into these disorders. The C9ORF72 genetic variant is more common than other described mutations and, unlike patients with mutations in SOD1, C9ORF72-ALS clinically and pathologically resembles the more numerous sporadic form.(3) However, progress has been limited by lack of understanding of the function of the C9ORF72 locus in health and disease. It is unknown whether the expansion causes disease by a gain of toxicity, or whether it disrupts expression of the wild-type protein encoded by the C9ORF72 gene, or some combination of both mechanisms.(1,2,4.)

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • C9orf72 Protein
  • DNA Mutational Analysis
  • DNA Repeat Expansion / genetics*
  • Female
  • Frontotemporal Dementia / genetics*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Proteins / genetics*
  • RNA, Messenger / metabolism

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Proteins
  • RNA, Messenger