A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

Kohno, Satoshi; Takahashi, Yoshitomo; Miyajima, Hiroaki; Serizawa, Masahiro; Mizoguchi, Koichi

doi:10.1016/s0304-3940(99)00803-4

Cited by 25 publications

(15 citation statements)

References 6 publications

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“…This mutation has also been reported in a Japanese population (Morita et al, 1996). The Japanese cases with a Cys6Phe substitution and a Cys6Gly substitution also showed rapid disease progression and had disease onsets and clinical features that were similar to our patient cohort (Table 1) (Kohno, Takahashi, Miyajima, Serizawa, & Mizoquchi, 1999;Morita et al, 1996). This study supports the assertion that the cysteine at amino acid position 6 might be associated with the rapid progression of ALS.…”

Section: Discussionsupporting

confidence: 90%

Clinical Features and Cu/Zn Superoxide Dismutase Gene Mutations in Two Mainland Chinese Families With Amyotrophic Lateral Sclerosis

Zhao

Yin

et al. 2011

International Journal of Neuroscience

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Clinical information of two families with amyotrophic lateral sclerosis (ALS) was studied and a mutation analysis of the SOD1 gene was performed using direct DNA sequencing. Two previously reported mutations of the SOD1 gene, G20T (Cys6Phe substitution), and G255C (Leu84Phe substitution), were identified and cosegregated with the disease in the two families. Patients with a Cys6Phe mutation demonstrated rapid disease progression with severe clinical phenotypes, and the patients with a Leu84Phe mutation had a variety of different clinical phenotypes. This is the third report of SOD1 gene mutations in Mainland Chinese patients with different ALS phenotypes. This supports the hypothesis that the clinical course of ALS may vary depending on the specific genetic mutation.

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Section: Discussionsupporting

confidence: 90%

Clinical Features and Cu/Zn Superoxide Dismutase Gene Mutations in Two Mainland Chinese Families With Amyotrophic Lateral Sclerosis

Zhao

Yin

et al. 2011

International Journal of Neuroscience

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“…Mutations occurring at the SOD1 gene are associated with reduced SOD activities and amyotrophic lateral sclerosis. 17 A DNA variant at the SOD3 gene is associated with a reduced affinity for heparin, which may compromise the ability of SOD3 to bind to the vascular wall, thereby reducing its antioxidant capacity. 18 Moreover, we have reported significant genetic contributions to the variance of common SOD3 phenotypic traits.…”

Section: See Page 1102mentioning

confidence: 99%

Genetic Contributions to Plasma Total Antioxidant Activity

Wang

Rainwater

VandeBerg

et al. 2001

ATVB

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Abstract-Oxidative stress plays important roles in a wide spectrum of pathological processes, such as atherosclerosis.Although several environmental factors are documented to influence redox metabolism, relatively little is known about genetic effects. In the present study, we evaluated genetic contributions to variation in plasma total antioxidant status (TAS), a measure of peroxyl-scavenging capacity, in 1337 members of 40 Mexican American families. TAS levels were significantly lower in women than in men (1.675Ϯ0.004 versus 1.805Ϯ0.005 mmol/L, respectively; PϽ0.001), and there was a significant decline of TAS levels with age in men but not in women (PϽ0.01 for the interaction). Quantitative genetic analysis indicated the heritability of TAS levels to be 0.509Ϯ0.052; ie, Ϸ51% of the residual variance (after covariate adjustment) in TAS levels was due to the additive effects of genes (PϽ0.001). We have further observed a significant gene-by-smoking interaction (PϽ0.05). Additive genetic effects account for 83% of the residual phenotypic variance in TAS levels among smokers, but they account for only 49% in nonsmokers. However, genes contributing to TAS variation are the same in smokers and nonsmokers.

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“…Mutations in exon 1, such as A4V, A4T, C6F, or G10V in the SOD1 gene result in severe clinical symptoms, such as young age at onset, severe motor weakness, and a very rapid progression [5][6][7][8][9][10]. In contrast, mutations of G41D, H46R, or G93D in the SOD1 gene result in very mild clinical symptoms, such as slow progression with disease duration lasting more than 20 years after onset [5,11].…”

Section: Introductionmentioning

confidence: 99%

Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene

Hineno

Nakamura

Shimojima

et al. 2012

Journal of the Neurological Sciences

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A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

Cited by 25 publications

References 6 publications

Clinical Features and Cu/Zn Superoxide Dismutase Gene Mutations in Two Mainland Chinese Families With Amyotrophic Lateral Sclerosis

Clinical Features and Cu/Zn Superoxide Dismutase Gene Mutations in Two Mainland Chinese Families With Amyotrophic Lateral Sclerosis

Genetic Contributions to Plasma Total Antioxidant Activity

Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene

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