Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

Neurobiol Aging. 2014 May;35(5):1213.e13-7. doi: 10.1016/j.neurobiolaging.2013.11.033. Epub 2013 Dec 4.

Abstract

The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.

Keywords: C9orf72; Frontotemporal dementia; GRN; Korean; MAPT; Mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / genetics
  • Asian People / genetics*
  • C9orf72 Protein
  • DNA Repeat Expansion*
  • Female
  • Frontotemporal Dementia / genetics*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Progranulins
  • Proteins / genetics*
  • tau Proteins / genetics*

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • MAPT protein, human
  • Progranulins
  • Proteins
  • tau Proteins

Supplementary concepts

  • Amyotrophic lateral sclerosis 1