Abstract
We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene (TGC to TTT), which resulted in Cys6 to Phe substitution in a Japanese family with amyotrophic lateral sclerosis (ALS). This is the first case of familial ALS-associated two-base change of the SOD1 gene. Similar to several mutations in exon 1 of the SOD1 gene such as Ala4 to Val, Ala4 to Thr and Val14 to Met, affected members of the present family showed a rapid progression of motor dysfunction. Although Ala4, Cys6 and Val7 reside in the middle of the first B-strand of the SOD1, a family with a mutation of Val7 to Glu associates with slow progression of the disease. These findings suggest that clinical courses are variable with each mutation, even in the same exon.
| Original language | English |
|---|---|
| Pages (from-to) | 79-82 |
| Number of pages | 4 |
| Journal | Neuroscience Letters |
| Volume | 205 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 23 1996 |
| Externally published | Yes |
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Keywords
- Amyotrophic lateral sclerosis
- Gene
- Mutation
- Superoxide dismutase
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. / Morita, Mitsuya; Aoki, Masashi; Abe, Koji; Hasegawa, Takafumi; Sakuma, Ryo; Onodera, Yoshiaki; Ichikawa, Nobumichi; Nishizawa, Masatoyo; Itoyama, Yasuto.
In: Neuroscience Letters, Vol. 205, No. 2, 23.02.1996, p. 79-82.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan
AU - Morita, Mitsuya
AU - Aoki, Masashi
AU - Abe, Koji
AU - Hasegawa, Takafumi
AU - Sakuma, Ryo
AU - Onodera, Yoshiaki
AU - Ichikawa, Nobumichi
AU - Nishizawa, Masatoyo
AU - Itoyama, Yasuto
PY - 1996/2/23
Y1 - 1996/2/23
N2 - We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene (TGC to TTT), which resulted in Cys6 to Phe substitution in a Japanese family with amyotrophic lateral sclerosis (ALS). This is the first case of familial ALS-associated two-base change of the SOD1 gene. Similar to several mutations in exon 1 of the SOD1 gene such as Ala4 to Val, Ala4 to Thr and Val14 to Met, affected members of the present family showed a rapid progression of motor dysfunction. Although Ala4, Cys6 and Val7 reside in the middle of the first B-strand of the SOD1, a family with a mutation of Val7 to Glu associates with slow progression of the disease. These findings suggest that clinical courses are variable with each mutation, even in the same exon.
AB - We have identified a novel two-base mutation in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene (TGC to TTT), which resulted in Cys6 to Phe substitution in a Japanese family with amyotrophic lateral sclerosis (ALS). This is the first case of familial ALS-associated two-base change of the SOD1 gene. Similar to several mutations in exon 1 of the SOD1 gene such as Ala4 to Val, Ala4 to Thr and Val14 to Met, affected members of the present family showed a rapid progression of motor dysfunction. Although Ala4, Cys6 and Val7 reside in the middle of the first B-strand of the SOD1, a family with a mutation of Val7 to Glu associates with slow progression of the disease. These findings suggest that clinical courses are variable with each mutation, even in the same exon.
KW - Amyotrophic lateral sclerosis
KW - Gene
KW - Mutation
KW - Superoxide dismutase
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UR - http://www.scopus.com/inward/citedby.url?scp=0030052392&partnerID=8YFLogxK
U2 - 10.1016/0304-3940(96)12378-8
DO - 10.1016/0304-3940(96)12378-8
M3 - Article
C2 - 8907321
AN - SCOPUS:0030052392
VL - 205
SP - 79
EP - 82
JO - Neuroscience Letters
JF - Neuroscience Letters
SN - 0304-3940
IS - 2
ER -