Rapid Progression of Sporadic ALS in a Patient Carrying SOD1 p.Gly13Arg Mutation

Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons. Mutations in the Cu/Zn superoxide dismutase gene (SOD1) account for about 20% of familial ALS cases and a small percentage of sporadic ALS (SALS) cases, and have revealed a validated genotype-phenotype correlation. Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons. A 48-year-old man presented with progressive weakness and muscle atrophy of the left upper and lower limbs, followed by muscle fasciculation and cramping. The clinical features of the patient were clearly suggestive of ALS, and implied a sporadic form with rapid progression, predominantly affecting the lower motor neurons. Sequencing of the SOD1 gene by PCR revealed a missense mutation of G to C (c.37G>C) in exon 1, and amino acid substitution of glycine by arginine (p.Gly13Arg). This is the first case identifying the p.Gly13Arg mutation of SOD1 in the Korean population, and clinical assessments of this patient revealed a different phenotype compared with other cases.

The cloning of human OPRMI-EXON1 and preparation of its probe / 西安交通大学学报(医学版)

Objective To clone and sequence human OPRMI-EXON1, mark it by way of nonisotope-biotin-label, and prepare its probe to study the expression and function of human OPRMI-EXON1. Methods The target gene fragment was amplified by polymerase chain reaction (PCR), and connected to the pGEM-T vector plasmid, then recombined and cloned in competent cell. After that, it was identified by cutting with restriction endonucleases and gene sequence. Finally, we marked it and prepared its probe by nonisotope-biotin-label technique. Results It was demonstrated that the target gene length (2.2kb) amplified by polymerase chain reaction had the same size with the reckoned size in theory and had the same sequence with that of NCBI database. The probe which was used to study the opioid receptor gene was successfully prepared. Conclusion The human OPRMI-EXON1 can be successfully cloned and the probe successfully prepared from the genome, which creates a favorable basis for further research of the morphine-related genes and the expression of their dependence.