Cystic fibrosis (CF) is a relatively common inherited disease. In the absence of treatment, from infancy those with CF have recurring chest infections causing progressive lung damage, intestinal malabsorption leading to severe malnutrition and growth failure. There is an excess of salt in the sweat. Without treatment, CF usually causes death during infancy or early childhood.
The disease is caused by mutations in a pair of genes on chromosome 7. Every cell in the body (except the sex cells) has 46 chromosomes (23 pairs, one half inherited from the mother and the other half from the father). Genes on these chromosomes form the body’s blueprint for producing proteins that control body functions. There is a gene on each number 7 chromosome that is responsible for the production of a protein called cystic fibrosis transmembrane regulator (CFTR). Mutations in this gene lead to absent or defective CFTR production, which then causes CF. More than 2,000 different CF mutations have been identified, although some are much more common than others, DF 508 being the most common.
Since CF is recessive, an affected individual must have a mutation in each CFTR gene on each chromosome 7 in order to have the disease (one abnormal copy from each parent). An individual with one normal copy of the gene and one abnormal copy will be a CF carrier. Carriers do not have symptoms and are not ill, but they may pass their abnormal copy of the gene on to their children. Both parents of an affected infant must have the CF gene (be carriers or have CF themselves) for their child to have CF. Caucasian people from Northern Europe and Ashkenazi Jews have the highest population carrier rates (about 1 in 20-25).
Having CF means the absence of or defective production and function of CFTR. This leads to abnormal salt and water movement in and out of the epithelial cells with thick, sticky mucus in the lungs and pancreas leading to chest infections and/or blockages in the pancreatic and liver ducts leading to poor fat and protein digestion. The majority of males with CF are also infertile due to missing or underdeveloped vas deferens, the tubules that transport sperm from the testes. Most people with CF will develop respiratory and pancreatic symptoms very early in their life, although symptom severity will vary from person to person, even in those with the same mutations.
CF is one of the most common recessive genetic disorders in Europe. Currently, there is no prevention or cure, only treatment of the symptoms. However, research is being conducted to develop a cure and to enhance treatments. In fact, great strides have been made over the past 30 years, which are allowing people with CF to live longer lives of improved quality. The median survival in the UK is now over 43 years.