Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis

Isao Nagano, Tetsuro Murakami, Mito Shiote, Yasuhiro Manabe, Shinji Hadano, Yoshiko Yanagisawa, Joh E. Ikeda, Koji Abe

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

ALS2 is an autosomal recessive form of amyotrophic lateral sclerosis (AR-ALS) with juvenile onset, and has been mostly found in North African and Middle Eastern countries. Deletion mutations in the coding exons of a new gene ALS2, encoding a protein with guanine-nucleotide exchange factor (GEF) domains, have recently been identified in ALS2 patients. These mutations are predicted to cause a loss of protein function, indicating that ALS2 is the causative gene underlying ALS2. To examine whether ALS2 is mutated in Japanese ALS patients sharing some characteristics of ALS2, we analyzed ALS2 gene from three patients with AR-ALS. While no deletion mutation was detected in the coding regions of ALS2 gene, several single-nucleotide polymorphisms (SNPs) that have been found in healthy controls as well as in Tunisian ALS2 patients were found mostly in intronic regions of the gene. These results suggest that deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS.

Original languageEnglish
Pages (from-to)505-509
Number of pages5
JournalNeurological Research
Volume25
Issue number5
DOIs
Publication statusPublished - Jul 1 2003

Fingerprint

Single Nucleotide Polymorphism
Genes
Sequence Deletion
Juvenile Amyotrophic Lateral Sclerosis 2
Autosomal Recessive Amyotrophic Lateral Sclerosis
Guanine Nucleotide Exchange Factors
Exons
Proteins
Mutation

Keywords

  • ALS
  • ALS2
  • ALS2 gene
  • Autosomal-recessive ALS
  • Deletion mutations
  • SNPs

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. / Nagano, Isao; Murakami, Tetsuro; Shiote, Mito; Manabe, Yasuhiro; Hadano, Shinji; Yanagisawa, Yoshiko; Ikeda, Joh E.; Abe, Koji.

In: Neurological Research, Vol. 25, No. 5, 01.07.2003, p. 505-509.

Research output: Contribution to journalArticle

Nagano, Isao ; Murakami, Tetsuro ; Shiote, Mito ; Manabe, Yasuhiro ; Hadano, Shinji ; Yanagisawa, Yoshiko ; Ikeda, Joh E. ; Abe, Koji. / Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. In: Neurological Research. 2003 ; Vol. 25, No. 5. pp. 505-509.
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