Monday, October 30, 2023

How Cystic fibrosis is inherited

According to the Cystic Fibrosis Foundation, Cystic fibrosis is a progressive, genetic diseases that affects the lungs, pancreas and other organs. Around the world, in about 94 countries, there are about 105,000 individuals living with Cystic fibrosis. Cystic fibrosis is not racially-selective and as such, it can affect anyone in any racial or ethnic group. Cystic fibrosis is caused by a mutation in the Cystic fibrosis transmembrane conductance regulator (CTFR) gene. 

The disease affects the cells that produce secreted fluids in the body like mucus, sweat and digestive juices. Usually, these fluids are thin and slippery but the mutation of the CTFR gene causes them to be sticky and thick and they begin to block tubes, ducts, and passageways in the lungs and digestive system. The past years have seen an improvement in the quality of life of people living with Cystic fibrosis due to improved medical research.

Usually, every child inherits one CFTR gene from each parent making a gene pair. Consequently, when a child inherits a mutated CFTR gene from both parents, the child will have cystic fibrosis. On the other hand, if a mutated CFTR gene is inherited from just one of the parents then the offspring will be a genetic carrier of the CFTR gene. It is important to note that for this to happen then the other parent must have a normal CFTR gene.


1 comment:

  1. I have always known what cystic fibrosis was, but I never knew the cause, like how the disease affected the cells like that. It is interesting that the CTFR gene was narrowed down as being the responsible mutated gene that causes the secreted fluids to be sticky and thick, thus blocking important passageways and causing most of the cystic fibrosis symptoms. Now that we know which gene is responsible, maybe we can come up with better treatments and gene therapies to help limit or prevent the mutations responsible for causing cystic fibrosis!