Hu Jun, Chen Kangning, Ni Bing, Li Lusi, Chen Guisheng, Shi Shugui
Department of Neurology, Southwest Hospital, The Third Military Medical University, Chongqing, China.
Amyotroph Lateral Scler. 2012 Jan;13(1):149-54. doi: 10.3109/17482968.2011.621437. Epub 2011 Dec 20.
Familial amyotrophic lateral sclerosis (FALS) accounts for about 5% of cases of the neurodegenerative disorder ALS. At least 100 Cu/Zn superoxide dismutase (SOD1) genetic mutations have been associated with FALS. We identified a FALS family in China with an atypical clinical phenotype. To investigate the SOD1 gene mutations in this family, five exons of the SOD1 gene from each living patient were amplified by PCR and screened by SSCP and direct DNA sequencing. SSCP analysis demonstrated a mutation in exon 2 of SOD1, and DNA sequencing demonstrated the presence of an insertion mutation in exon 2 that has not been reported previously. The mutant SOD1 gene encodes a truncated protein of 35 amino acid residues compared to the normal SOD1 protein of 153 amino acids. In conclusion, The SOD1 exon 2 mutation is likely to be the etiological factor of ALS in this family.
家族性肌萎缩侧索硬化症（FALS）约占神经退行性疾病肌萎缩侧索硬化症（ALS）病例的5%。至少100种铜/锌超氧化物歧化酶（SOD1）基因突变与FALS相关。我们在中国发现了一个具有非典型临床表型的FALS家系。为了研究该家系中的SOD1基因突变，通过聚合酶链反应（PCR）扩增了每位在世患者SOD1基因的5个外显子，并采用单链构象多态性（SSCP）和直接DNA测序进行筛查。SSCP分析显示SOD1基因第2外显子存在突变，DNA测序表明第2外显子存在一个此前未报道的插入突变。与正常的153个氨基酸的SOD1蛋白相比，突变的SOD1基因编码一个35个氨基酸残基的截短蛋白。总之，SOD1基因第2外显子突变可能是该家系中ALS的病因。
