L3 - Mutations (Cystic Fibrosis)

• Cystic fibrosis is an inherited recessive genetic condition caused by a mutation in a specific gene (must have 2 copies of the mutated gene to have the disease e.g. nn/homozygous recessive as a genotype).
• Cystic fibrosis causes thick, sticky mucus to block the bronchioles of the lungs.
• To treat cystic fibrosis, an inhaler is used to send normal versions of the gene to the lung tissue so that they can make the protein needed to prevent the symptoms of cystic fibrosis.

  There are difficulties with this treatment method. They are:

  • There is no guarantee that the genes will get into the lung cells.
  • If the genes get into the cell, it must then get into the nucleus.
  • It's not permanent because cells that took up the gene will die and be replaced by cells with the mutated allele.