scholarly journals A De NovoRAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution

2018 ◽  
Vol 27 (6) ◽  
pp. 550-563 ◽  
Author(s):  
Keunjung Heo ◽  
Su Min Lim ◽  
Minyeop Nahm ◽  
Young-Eun Kim ◽  
Ki-Wook Oh ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amyotrophic Lateral Sclerosis Patient ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Microtubule Stability ◽  
Lateral Sclerosis

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient

2011 ◽  
Vol 32 (3) ◽  
pp. 552.e1-552.e6 ◽  
Author(s):  
Lucia Corrado ◽  
Yari Carlomagno ◽  
Luca Falasco ◽  
Simona Mellone ◽  
Michela Godi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amyotrophic Lateral Sclerosis Patient ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Glutathione S-transferase Omega 2 DD genotype is associated with an increased risk of sporadic amyotrophic lateral sclerosis in Chinese men

2021 ◽  
Vol 49 (7) ◽  
pp. 030006052110332
Author(s):  
Zhiliang Fan ◽  
Hong Jiang ◽  
Xueqin Song ◽  
Yansu Guo ◽  
Xinying Tian
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Healthy Subjects ◽  
Chinese Population ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Glutathione S Transferase ◽  
Genotype Frequencies ◽  
Sporadic Als ◽  
Increased Risk ◽  
Chi Squared ◽  
Lateral Sclerosis

Objective To investigate whether GSTA1, GSTO2, and GSTZ1 are relevant to an increased risk of amyotrophic lateral sclerosis (ALS) in a Chinese population. Methods In this study, 143 sporadic ALS (sALS) patients (83 men, 60 women) and 210 age- and sex-matched healthy subjects were enrolled. Blood samples were collected by venipuncture. Genomic DNA was isolated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) according to the manufacturer’s instructions. The potential associations between ALS and GSTA1, GSTO2, and GSTZ1 polymorphisms were estimated using chi-squared analysis and unconditional logistic regression. Results The D allele and genotype frequencies of GSTO2 were increased in sALS patients compared with healthy subjects, indicating that the GSTO2 DD genotype was associated with an increased risk of sALS (odds ratio [OR] = 3.294, 95% confidence interval [CI] = 1.039–10.448). However, a significant association between the DD genotype and the risk of sALS was evident in men only (OR = 7.167, 95% CI = 1.381–37.202). Conclusion This study revealed that the D allele and genotype frequencies of GSTO2 were increased in sALS patients. The GSTO2 DD genotype was associated with an increased risk of sALS in men in a Chinese population.

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