In a break from the usual training posts, today I bring you a brief bit of SCIENCE. Since I will be running the Great North Run in order to raise money for the Cystic Fibrosis Trust, I thought I'd introduce the disease and the current treatments available.
Many will already be aware that cystic fibrosis is a genetic disorder – that is, a condition that is due to a hereditary mutation. Some may also be aware of the symptoms and difficulties of living with CF, all of which stem back to a mutation in one gene encoding an important salt channel, the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The name ‘cystic fibrosis’ refers to cyst formation and fibrosis (scarring), which are characteristic symptoms of the disease. Other symptoms include breathing difficulties, problems with digestion and fertility, and deficient insulin production (in older patients), all due to the presence of the faulty CFTR protein, and it is these which lead to the life-shortening effects of CF.
CF is a recessive genetic disease, which means that in order to inherit the disease, both parents must be carriers of the faulty CFTR gene. Each child born to carriers of the faulty gene has a 1 in 4 chance of having CF. There is a 2 in 4 chance that the child will be a carrier of the faulty gene, and a 1 in 4 chance that the child will not carrying the faulty gene at all.
Treatment currently consists of a combination of physiotherapy (to help loosen and clear sticky mucus from the lungs), exercise, medication (such as Bronchodilator drugs and steroids) and a suitable diet. The use of gene therapy is also being investigated to target the inherited genetic defect, rather than the symptoms of the disease.
I’ll be revisiting some of the topics I’ve mentioned in this post in the future, to take a more in-depth look at the science behind the disease, and the future of gene therapy. But for now, have some statistics…
Stats:
- Cystic fibrosis affects over 9,000 people in the UK (1 in every 2,500 births)
- Worldwide, there are between 70,000 and 100,000 CF sufferers
- Roughly 1 in 25 people in the UK are carriers of the faulty CFTR gene
- The average life expectancy for CF sufferers is around 38 years, but is dependent on access to healthcare and efficacy of treatments.
