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About CF » Genetics and cell biology of CFTR

Genetics and cell biology of CFTR

Introduction

The inheritance of CF is described by geneticists as ‘autosomal recessive’; in other words, to suffer from CF a person must possess two defective CFTR genes by inheriting a mutant copy of one CFTR gene from each parent. People with a single CFTR mutation are called carriers and do not have symptoms.1

The image on the left depicts autosomal recessive inheritance. Individuals with one mutated CFTR allele do not suffer from CF and are called carriers. Unaffected individuals have no mutated CFTR alleles. An affected person has mutations on both CFTR alleles and has CF.

CF mainly affects Caucasian populations of European descent, with around 1 in 29 Europeans and Americans thought to carry mutations in the CFTR gene.2 Over the years, researchers have investigated the genetics of CF and how mutations in the CFTR gene translate into clinical symptoms. This work has proven to be pivotal in developing targeted therapies for CF.

CFTR journey

Discover how the CFTR protein is synthesised in the cell: from gene to cell surface.

Structure and regulation of CFTR

The three-dimensional structure of CFTR plays a vital role in the function and regulation of this protein. Discover more here.

Function of CFTR

Learn more about the role of CFTR in various organs and tissues throughout the human body.

References
  1. Row S et al. N Engl J Med 2005;352:1992–2001
  2. Report of joint meeting of WHO/ECFTN/ICF(M)A/ECFS. Molecular genetic epidemiology of cystic fibrosis. World Health Organization 2004 [Link]