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Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
Cystic Fibrosis
- Question
- Why do so many mutations cause this one disease cystic fibrosis ?
- Answer
- CF is caused by the fact that an insufficient amount of protein or a poorly functional CFTR protein is present. The CFTR gene is composed of 180.000 DNA building blocks and is transcribed to 6500 RNA building stones, that form the CFTR protein made up of about 1500 amino acids. Changing one building block in the composition of the CFTR gene or one change in the amino acid composition of the CFTR protein can result in an insufficient amount of functional CFTR protein in the cell. There are thus very many possible mutations (errors) that can lead to a non-functional CFTR protein. The end result is always insufficient function of CFTR and that is why the resulting disease is always cystic fibrosis. This explains why so many mutations can lead to CF. If you want even more information, please consult the questions in the sections, ‘carriers’, ‘inheritance’ and ‘cause’.
Kind regards
H. Cuppens
- 01.12.2011
