A mutant SOD1 ALS family expression and conformational analysis of space.docVIP

 PAGE \* MERGEFORMAT 16 A mutant SOD1 ALS family expression and conformational analysis of space Study: Ultra-Li Hu Jun Wang Feng Wu Yaguang Ruth Kangning Chen Shi Shugui [Abstract] Objective: For a amyotrophic lateral sclerosis (Amyotrophic lateral sclerosis, ALS) mutations in families of copper, zinc superoxide dismutase (Cu / Zn superoxide dismutase, SOD1) gene studies to find out with the wild-type SOD1 in different parts of the nervous tissue differentiation. using software modeling, to the mutant SOD1 protein secondary and tertiary structure prediction and analysis. Methods: Northern blot analysis of mutant SOD1 mRNA; mutant SOD1 cDNA and cloned wild-type SOD1 cDNA, using a variety of nerve tissue containing human mRNA Northern hybridization of precast film, to understand and wild type SOD1 mutant SOD1 in different parts of the nervous tissue difference; using the software of the mutant protein secondary and tertiary structure model construction. Results: Northern blot analysis confirmed the exon 2 mRNA reduced. wild type and mutant SOD1 genes have similar tissue differences, the highest expression in the cerebral cortex, the weakest expression in the spinal cord. mutated SOD1 protein secondary and tertiary structure of wild-type SOD1 are similar. Conclusion: The mutation of SOD1 activity of functional decline may be caused by the family disease of the reasons, SOD1 gene in different neural tissue difference may be that the family ALS patients with clinical manifestations of the following motor neuron damage to the main reason. [Keywords:] amyotrophic lateral sclerosis; zinc superoxide dismutase; expression; conformation We found in Chongqing autosomal dominant inheritance of a amyotrophic lateral sclerosis (Amyotrophic lateral sclerosis, ALS) pedigrees [1], the family and the current clinical phenotype of FALS families reported clinical phenotypes are different manifestations : (1) The following motor neuron damage as the main clinical manifesta