Comparative genetic analysis of cystic fibrosis in populations of the republic of Moldova and India

Abstract

Cystic Fibrosis is the most common and life shortening disease in Caucasians, and it is found commonly in Europe, Australia and United States of America. It is an autosomal recessive monogenetic disorder that affects several system, which is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductor Regulator) gene. This gene encodes for the transmembrane conductance regulator protein which responsible for the conductance of chloride ions across epithelial cells in different organs. This affects the transport of salt and water in different organs, which results in thick secretions.

Aim of the study: To study the genetic component and mutation of cystic fibrosis in different races especially in India and Moldova, to understand the pathogenesis of the genetic material that causes cystic fibrosis.

Material and methods. Analysis of latest articles and databases concerning Cystic fibrosis in both populations.

Conclusion. 1 in 2000 is the prevalence of Cystic fibrosis patient in Moldova whereas 1 in 40000 to 100000 is the prevalence in India.Recent statistics suggest that 1 in 25000 expatriates of India in United Kingdom and United States of America have Cystic fibrosis. However, the exact number of Cystic Fibrosis patients in India are unknown compared to Moldova due to the lack of studies conducted in the Indian population and also non availability of screening or investigation methods. More than 1000 mutations have been identified in CFTR gene in different ways.ΔF508, which means deletion of phenylalanine at the 508 positon, is the most common mutation found. The most frequent mutations of the CFTR gene in Moldavian populations are ΔF508, G542X & W1282X, and in India ΔF508, -219insG & S169G.

Better understanding and screening of the population have increased the life expectancy of the cystic fibrosis patients. New screening methods need to be implemented into the health care systems as well as holding seminars for the health care professionals to improve the diagnosis and patient support. Early diagnosis will improve the life of patient and reduce mortality.