SOD1 C6W mutation and exon deletion in an amyotrophic lateral sclerosis patient

Parisa Ghiasi, Saman Hosseinkhani, Shahriar Nafissi, Khosro Khajeh
2014 Molecular and Biochemical Diagnosis (MBD)   unpublished
Despite the genetic heterogeneity in familial ALS (FALS), SOD1 gene mutations are the most frequent cause of FALS, accounting for around 20% of familial cases and sporadic cases. Mutant forms of SOD1 exhibit toxicity that promotes the death of motor neurons. In case of FALS protein aggregates are produced in the motor neurons in patients, which is probably associated to mitochondria. Methods: In this study, we cloned the SOD1 gene, using reverse transcription Polymerase Chain Reaction (RT-PCR)
more » ... ethod, from a 79 years-old man diagnosis as sporadic form of ALS who had shown unusual rapid progression of disease and a matched control individual. The RNA was extracted from the available lymphocytes. pET28a expression system and BL21 chemically competent Escherichia coli strain as host were used for protein expression. Results: DNA sequencing data showed that both heterozygosis C to G transition at nucleotide position 21 leading to a C6W changing at protein level and a deletion at nucleotides position 73 to 169 leading to complete deletion of exon two. Conclusions: Based on this case study, it appears that SOD-1 mutation and its protein aggregation is associated with the progression of ALS.