Molecular characterization of Duchenne Muscular Dystrophy in a canine Golden Retriever model (GRMD)

• Grant number: 15/26554-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2016
• End date: April 30, 2017
• Field of knowledge: Agronomical Sciences - Veterinary Medicine - Animal Reproduction
• Principal Investigator: Natalia Juliana Nardelli Gonçalves
• Grantee: Shamira de Fátima Sallum Leandro
• Host Institution: Faculdade de Zootecnia e Engenharia de Alimentos (FZEA). Universidade de São Paulo (USP). Pirassununga , SP, Brazil

Abstract

The Duchenne muscular dystrophy is a genetic disorder that generates progressive degeneration of skeletal muscles. The gene encoding dystrophin protein is formed by 79 exons, and its size makes it very susceptible to mutations. The Golden Retriever Muscular Dystrophy (GRMD) is genetically homologous to muscular dystrophy Duchenne (DMD) which affects humans, and this animal model is what most resembles the mutation in humans, with a point mutation, where the exon 7 is deleted, causing a premature stop in exon 8. The characterization of this gene and its mutations is critical to any future evaluations, studies in humans basing enabling the correction of a degenerative disease and the development of a new model. The objective of this research is to establish the GRMD fibroblasts in our lab, featuring such cells for the presence of the mutation by molecular techniques, establishing a demonstrably altered strain for use in future studies and develop a diagnostic method for Duchenne Muscular Dystrophy with reliable molecular basis and efficient for research and trials in our group.