Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
Use this link to cite this item : https://ir.lib.hiroshima-u.ac.jp/00034789
ID | 34789 |
file | |
creator |
Sugihara, Katsunobu
Kamada, Masaki
|
subject | ALS
amyotrophic lateral sclerosis
Polymorphism
Optineurin
OPTN
|
NDC |
Medical sciences
|
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.
|
journal title |
Neurobiology of Aging
|
volume | Volume 32
|
issue | Issue 10
|
start page | 1923.e9
|
end page | 1923.e10
|
date of issued | 2011
|
publisher | Elsevier Science Inc
|
issn | 0197-4580
|
ncid | |
publisher doi | |
language |
eng
|
nii type |
Journal Article
|
HU type |
Journal Articles
|
DCMI type | text
|
format | application/pdf
|
text version | author
|
rights | (c) 2011 Elsevier Inc. All rights reserved.
|
relation url | |
department |
Research Institute for Radiation Biology and Medicine
|
Last 12 months's access : ? times
Last 12 months's DL: ? times
This month's access: ? times
This month's DL: ? times