title: Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.
abstract: Mutations in the optineurin (OPTN) gene cause amyotrophic lateral sclerosis (ALS). We previously reported 3 types of OPTN mutation in Japanese ALS subjects. Here, to identify the OPTN mutations in individuals of different ethnicity, we screened 563 sporadic ALS (SALS) subjects and 124 familial ALS (FALS) subjects who were mainly Caucasian. We found a c.964T>C synonymous variation in exon 8. However, we could not find the meaningful OPTN mutations. The results indicate that OPTN mutations causing ALS are rare, especially in mainly Caucasian ALS subjects.
authors.affiliation: Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Minami-ku, Hiroshima, Japan.
authors.forename: Katsunobu
authors.initials: K
authors.lastname: Sugihara
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Maruyama
authors.forename: Masaki
authors.initials: M
authors.lastname: Kamada
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morino
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D018797:Cell Cycle Proteins; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D044465:White People
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA