Visani Michela, de Biase Dario, Bartolomei Ilaria, Plasmati Rosaria, Morandi Luca, Cenacchi Giovanna, Salvi Fabrizio, Pession Annalisa
Department of Experimental Pathology, University of Bologna.
Amyotroph Lateral Scler. 2011 Sep;12(5):385-8. doi: 10.3109/17482968.2011.582648. Epub 2011 May 16.
Mutations in the superoxide dismutase-1 (SOD1) gene occur in some forms of familial amyotrophic lateral sclerosis (ALS). To date about 150 mutations are known to involve this gene. Here we describe a novel missense mutation in exon 5 of the SOD1 gene in an Italian family with two members affected by ALS. Sequencing of the SOD1 gene was performed on 11 members of the family and 75 healthy controls. Electron microscopy was also performed on one ALS patient. We identified a heterozygous mutation in codon 137 leading to substitution of threonine by alanine. Further studies are needed to clarify the role of this alteration in ALS aetiopathogensis; nevertheless, T137A seems to represent a new missense mutation of the SOD1 gene in ALS patients.
超氧化物歧化酶1（SOD1）基因突变存在于某些形式的家族性肌萎缩侧索硬化症（ALS）中。迄今为止，已知约有150种突变涉及该基因。在此，我们描述了一个意大利家族中SOD1基因第5外显子的一种新型错义突变，该家族中有两名成员患有ALS。对该家族的11名成员和75名健康对照进行了SOD1基因测序。还对一名ALS患者进行了电子显微镜检查。我们在密码子137处鉴定出一个杂合突变，导致苏氨酸被丙氨酸取代。需要进一步研究以阐明这种改变在ALS发病机制中的作用；然而，T137A似乎代表了ALS患者中SOD1基因的一种新的错义突变。
