Abstract

CYSTIC FIBROSIS: A REVIEW OF RECENT BIOTECHNOLOGICAL ADVANCEMENTS IN THE PATHOPHYSIOLOGY, CLINICAL REPRESENTATION, DIAGNOSIS AND APPROACHES TO TREATMENT

Kaustav Mahapatra, Rajesh Kumar Raman* and Siva Arumugam R.

ABSTRACT

The literature review article provides an overview of recent advancements in the fields of gene editing, gene therapy, personalized medicine, and the utilization of microorganisms for treating Cystic Fibrosis (CF), pulmonary lung disease, and other CF-associated complications. CF is a genetic disease that affects various organ systems, predominantly the lungs, pancreas, and digestive system. The clinical manifestations of CF are diverse but commonly include chronic lung infections, respiratory distress, persistent cough, and salty-tasting skin. Patients with CF often experience digestive issues such as malnutrition, poor weight gain, and greasy stools. The pathophysiology of CF involves the production of thick and sticky mucus that obstructs various organs, leading to persistent respiratory infections, pancreatic insufficiency, and other complications. Diagnosis of CF typically involves a combination of clinical evaluation, sweat chloride testing, and genetic testing. Sweat chloride testing quantifies the amount of salt in a person's sweat, which is typically elevated in CF patients due to a dysfunctional CFTR protein. Genetic testing can detect mutations in the CFTR gene, which confirms a diagnosis of CF. Other diagnostic assessments for CF may include lung function tests, chest X-rays, and sputum cultures for identifying specific bacterial pathogens. Early identification of CF is vital to initiate appropriate treatment and prevent long-term complications. Recent biotechnological breakthroughs have yielded innovative therapeutic alternatives for treating patients with cystic fibrosis (CF). The CRISPR-Cas9 technology shows promise in directly repairing mutations in the CFTR gene within a patient's cells. Gene therapy involves utilizing viral vectors, such as adeno-associated viruses (AAVs), to introduce functional CFTR genes into a patient's cells. Personalized medicine approaches strive to customize treatment based on an individual's unique genetic makeup. Pseudomonas aeruginosa, a common bacterial pathogen in CF patients, is being targeted with novel therapies. CFTR modulators, like ivacaftor, have exhibited positive outcomes in clinical studies by enhancing CFTR function. Stem cell therapy holds potential for renewing damaged lung tissue in individuals with CF. Additionally, biologics and biosimilars that target CFTR and other proteins associated with CF are currently in development. These recent biotechnological advancements hold great promise for improving the quality of life and life expectancy of individuals with CF.

Keywords: CF, CRISPR-Cas9, AAV, CFTR, P. Aeruginosa.