Abstract

CYSTIC FIBROSIS “AN OVERVIEW ABOUT DIAGNOSTIC AND TREATMENT APPROACH IN THE MUTED CFTR GENE”

Priya Shah* and Ankit Verma

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Abstract

Cystic fibrosis is a autosomal inherited disease caused mainly by genetic mutation in the CFTR gene. It is characterized by formation of thick, sticky mucus that can not be cleared by mucociliary clearance and can damage many of the body organ. Respiratory system is one of the organ which affect more severe and it can lead to death of patient due to breathing complication. CFTR(cystic fibrosis transmembrane conductance regulator) gene make functional protein that act as a channel which is responsible for the transport of chloride and sodium across membrane. Mutation in CFTR gene lead to development of altered protein channel which does not perform function properly and leads to development of abnormal concentrated mucus. Various pharmacological and nonpharmacological therapies improve the condition of patient significantly. Advance technique like gene therapy have been made for the treatment of this disease. In this review History, Epidemiology, prevelance, pathophysiology, genetic inheritance, structure of protein, genetic inheritance is reviewed.

Keywords: CFTR gene, Cystic fibrosis, Gene therapy, Mucus, Mucociliary clearance, periciliary layer.