Sumaira Kanwal, Shazia Perveen.
In-silico and Molecular Analysis of Reticulon 4asNovel therapeutic option for axonal regeneration.
J Pak Med Assoc Jan ;69(10):1425-30.

Objectives: To find interactions of the ligand with axonali nhibitors, and to check the optimum interactions of existing drugs as inhibitors for the protein that hinders the growth of injured neurons. Methods: The study was conducted at Kongju National University, Korea from May 2016 to March 2017. It consisted of two parts. Molecular analysis and bioinformatics analysis. The study comprised a family of six with Charcot-MarieTooth phenotypes, recommended by a neurologist for molecular analysis on the clinical symptoms to find the mutations responsible for the disease. Blood samples were collected from each family member and total deoxyribonucleic acid was extracted and it was analysed for Reticulon 4 gene by sequencing the coding and intronic regions. However, a missense mutation was found on exon 2 of the gene in the proband and the whole family was subsequently analysed. Bioinformatics analysis and docking studies were carried out to investigate the potential behaviour of Reticulon 4 as therapeutic agent. Sequencing analysis was performed to find the pathoegenic variant responsible for Charcot-Marie-Tooth type 1. Results: After checking pathogenicity of the mutation, Reticulon 4 gene was found to be not involved in CharcotMarie-Tooth disease type 1. Conclusion: Reticulon 4 gene was not found to be involved in causing Charcot-Marie-Tooth disease type 1.

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