Term |
Explanation |
CFTR (cystic fibrosis transmembrane regulator) |
A protein that is in the outer membrane of cells. It works by regulating the transport of salt in and out of the cell. Problems with the amount of CFTR in the cell membrane, its structure or the manner in which it functions can lead to altered transport of salt across the cell membrane. In the lungs of people with CF, these problems cause thick airway secretions. Abnormalities of CFTR can also lead to problems in other organs. |
CFTR correctors |
Drugs or chemicals that work by increasing the amount of CFTR in the cell membrane |
CFTR potentiators |
Drugs or chemicals that increase the effectiveness of CFTR at transporting salt across the cell membrane |
Nonsense mutation |
A sequence of DNA that makes no sense, resulting in no functional protein being produced. This is a type of class I mutation (premature termination codon) causing CF. |
Phenoytype |
The clinical picture resulting from inherited information |
Premature termination codon |
Also known as a class I mutation; includes nonsense and stop codon mutations |
Stop codon mutation |
A sequence that directs the normal cellular mechanism to stop, resulting in no functional protein being synthesised. This is a type of class I mutation (premature termination codon) causing CF |
Transcription |
The first step in protein synthesis. Information in a strand of DNA is copied into a code for the protein, which is then used to construct a protein molecule. The process of transcription is faulty in people with CF with class I mutations |