SOD۱ C۶W mutation and exon deletion in an amyotrophic lateral sclerosis patient

Background: Despite the genetic heterogeneity reported in familial ALS (FALS), SOD۱ gene mutations are the most frequent cause of FALS, accounting for around ۲۰% of familial cases (ALS۱) and isolated sporadic cases. Mutant forms of SOD۱ exhibit toxicity that promotes the death of motor neurons. It is well documented that FALS produces protein aggregates in the motor neurons of FALS patients, which have been found to be associated to mitochondria. Methods: In this study, we cloned the SOD۱ gene, using reverse transcriptase-polymerase chain reaction (RT-PCR) method, from both a healthy control and a living ۷۹ -year-old man with diagnosis of sporadic form of ALS who had shown unusual rapid progression of disease. RNA samples were available from lymphocytes of them. pET۲۸a expression system and BL۲۱ chemically competent Escherichia coli strain as host were used for protein expression. Results: DNA Sequencing data showed both heterozygosis C to G transition at nucleotide position ۲۱ leading to a C۶W changing at protein level and a deletion at nucleotides position ۷۳ to ۱۶۹ leading to complete deletion of exon two.

کلیدواژه ها:

Sporadic amyotrophic lateral sclerosis (SALS) ، Familial amyotrophic lateral sclerosis (FALS) ، Cu/Zn Superoxide dismutase ۱ (SOD۱) ، Exon deletion ، Point mutation