Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

Neurobiology of Aging Volume 32 Issue 10 Page 1923.e9-1923.e10 published_at 2011
アクセス数 : 1004
ダウンロード数 : 284

今月のアクセス数 : 0
今月のダウンロード数 : 0
File
NeurobioAging_32_1923e9.pdf 71.7 KB 種類 : fulltext
Title ( eng )
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
Creator
Sugihara Katsunobu
Kamada Masaki
Source Title
Neurobiology of Aging
Volume 32
Issue 10
Start Page 1923.e9
End Page 1923.e10
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.
Keywords
ALS
amyotrophic lateral sclerosis
Polymorphism
Optineurin
OPTN
NDC
Medical sciences [ 490 ]
Language
eng
Resource Type journal article
Publisher
Elsevier Science Inc
Date of Issued 2011
Rights
(c) 2011 Elsevier Inc. All rights reserved.
Publish Type Author’s Original
Access Rights open access
Source Identifier
[ISSN] 0197-4580
[DOI] 10.1016/j.neurobiolaging.2011.03.024
[NCID] AA10618297
[DOI] http://dx.doi.org/10.1016/j.neurobiolaging.2011.03.024