Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective motor neuron death in the brain and spinal cord. Many disease genes for ALS have been identified; however, each disease gene is responsible for very small fractions of ALS. Recently, mutations of the gene encoding optineurin (. OPTN) are reported in familial and sporadic ALS. . OPTN is also responsible for a small number of ALS, 3.8% of familial and 0.29% of sporadic ALS in Japanese. The low prevalence may be an underestimation due to incomplete screening of the mutation. To examine . OPTN mutations more extensively, we screened the . OPTN deletions using a quantitative PCR system. We examined 710 Japanese ALS subjects who had previously been found to have no . OPTN mutations by a screening using a PCR-direct sequence strategy. We identified 3 kinds of deletions in 5 patients; one was homozygous, and the remaining were heterozygous. All deletions occurred due to the Alu-mediated recombination and are expected to result in null alleles. Our results suggest that the . OPTN deletion mutation in ALS is not infrequent and the prevalence of the . OPTN mutation in Japanese sporadic ALS is considerably high.
| Original language | English |
|---|---|
| Pages (from-to) | 1843.e19-1843.e24 |
| Journal | Neurobiology of Aging |
| Volume | 33 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 01-01-2012 |
| Externally published | Yes |
Fingerprint
All Science Journal Classification (ASJC) codes
- Neuroscience(all)
- Ageing
- Clinical Neurology
- Developmental Biology
- Geriatrics and Gerontology
Cite this
}
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. / Iida, Aritoshi; Hosono, Naoya; Sano, Motoki; Kamei, Tetsumasa; Oshima, Shuichi; Tokuda, Torao; Nakajima, Masahiro; Kubo, Michiaki; Nakamura, Yusuke; Ikegawa, Shiro.
In: Neurobiology of Aging, Vol. 33, No. 8, 01.01.2012, p. 1843.e19-1843.e24.Research output: Contribution to journal › Article
TY - JOUR
T1 - Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese
AU - Iida, Aritoshi
AU - Hosono, Naoya
AU - Sano, Motoki
AU - Kamei, Tetsumasa
AU - Oshima, Shuichi
AU - Tokuda, Torao
AU - Nakajima, Masahiro
AU - Kubo, Michiaki
AU - Nakamura, Yusuke
AU - Ikegawa, Shiro
PY - 2012/1/1
Y1 - 2012/1/1
N2 - Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective motor neuron death in the brain and spinal cord. Many disease genes for ALS have been identified; however, each disease gene is responsible for very small fractions of ALS. Recently, mutations of the gene encoding optineurin (. OPTN) are reported in familial and sporadic ALS. . OPTN is also responsible for a small number of ALS, 3.8% of familial and 0.29% of sporadic ALS in Japanese. The low prevalence may be an underestimation due to incomplete screening of the mutation. To examine . OPTN mutations more extensively, we screened the . OPTN deletions using a quantitative PCR system. We examined 710 Japanese ALS subjects who had previously been found to have no . OPTN mutations by a screening using a PCR-direct sequence strategy. We identified 3 kinds of deletions in 5 patients; one was homozygous, and the remaining were heterozygous. All deletions occurred due to the Alu-mediated recombination and are expected to result in null alleles. Our results suggest that the . OPTN deletion mutation in ALS is not infrequent and the prevalence of the . OPTN mutation in Japanese sporadic ALS is considerably high.
AB - Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective motor neuron death in the brain and spinal cord. Many disease genes for ALS have been identified; however, each disease gene is responsible for very small fractions of ALS. Recently, mutations of the gene encoding optineurin (. OPTN) are reported in familial and sporadic ALS. . OPTN is also responsible for a small number of ALS, 3.8% of familial and 0.29% of sporadic ALS in Japanese. The low prevalence may be an underestimation due to incomplete screening of the mutation. To examine . OPTN mutations more extensively, we screened the . OPTN deletions using a quantitative PCR system. We examined 710 Japanese ALS subjects who had previously been found to have no . OPTN mutations by a screening using a PCR-direct sequence strategy. We identified 3 kinds of deletions in 5 patients; one was homozygous, and the remaining were heterozygous. All deletions occurred due to the Alu-mediated recombination and are expected to result in null alleles. Our results suggest that the . OPTN deletion mutation in ALS is not infrequent and the prevalence of the . OPTN mutation in Japanese sporadic ALS is considerably high.
UR - http://www.scopus.com/inward/record.url?scp=84861915198&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84861915198&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2011.12.037
DO - 10.1016/j.neurobiolaging.2011.12.037
M3 - Article
C2 - 22402017
AN - SCOPUS:84861915198
VL - 33
SP - 1843.e19-1843.e24
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
IS - 8
ER -