Genetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disorders

Abstract

This protein binds the intracellular actin to the extracellular lamellae through the dystroglycans and other transmembrane proteins The dystrophin protein helps in maintaining the cellular integrity of the muscle cell mainly during mechanical stress newlineAlthough a lot of research is being done in this field not much has been achieved in terms of precise diagnosis which forms the base for prevention strategies Moreover precise diagnosis is crucial as many of the therapeutic strategies in pipeline today are based on accurate molecular diagnosis Concerted efforts to understand the number is lacking in our country and the efforts in this study has been focused to reach patient and its family directly We believe this will set a strong base for future research Most of the diagnostic and therapeutic strategies are either incomplete or too expensive to reach the patients and to alleviate the pain that the families undergo The DMD gene was one of the early genes to be identified to cause a disease in the humans but since then much has not been achieved owing to the size of the gene 79 exons and the several isoforms that alter the clinical presentation Moreover lack of complete knowledge on the functions of the dystrophin protein overlapping pathophysiology of the disorder with several other similar muscular disorders in clinical symptoms and the overlapping functions of the muscular dystrophy proteins have also contributed to the complexity of handling the disorder However with no therapies immediately available in the market and the dependency of the upcoming therapies on the mutation on the DMD gene the aim of our study is to accurately identify the DMD gene mutations in patients affected by Duchenne and Becker muscular dystrophy newline