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Cystic Fibrosis ROSA RODRIGUEZ. What is it?  Cystic fibrosis is a hereditary disease that affects the cystic fibrosis transmembrane conductance regulator.

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Presentation on theme: "Cystic Fibrosis ROSA RODRIGUEZ. What is it?  Cystic fibrosis is a hereditary disease that affects the cystic fibrosis transmembrane conductance regulator."— Presentation transcript:

1 Cystic Fibrosis ROSA RODRIGUEZ

2 What is it?  Cystic fibrosis is a hereditary disease that affects the cystic fibrosis transmembrane conductance regulator (CFTR) protein, thus its name.  Lifelong progressive disease  Affects digestive and respiratory tracts by thickening secretions.

3 Biochemical nature  A mutation, most commonly a deletion, in the inherited gene for the protein CFTR changes the protein that regulates the movement of ions in and out (Cl - ). This protein, CFTR, is involved in production of sweat, fluids, and mucus. The protein serves as a channel on the membrane of cells that produce these secretions.  Cystic fibrosis causes severe damage to the lungs, the reproductive and digestive systems by affecting the cells that produce mucus, sweat, and digestive juices. These include those in both the digestive and respiratory systems. Secretions that are normally thin and slippery thicken and instead of serving as a lubricant, they plug up tubes, ducts, and passageways.  This gene is recessive making it an autosomal recessive genetic disease.

4 Symptoms  Wheezing  Breathlessness  Repeated lung infections  Stuffy nose  Poor weight gain  Severe constipation  Infertility in males

5 CFTR Protein The CFTR gene is located on the long (q) arm of chromosome 7 at the 7q31.2 cytogenetic location.

6 CFTR and Structure

7 Modeling of Human CFTR Protein Mutations affecting the heterodimer of the human CFTR protein.

8 Treatment There is no current cure for cystic fibrosis but life expectancy has increased to 20s and 30s. Progressive disease Lung infections associated with the disease are treated with antibiotics. Lung transplantation can be an option in severe lung cases.

9 References http://www.geneticdiseasefoundation.org/genetic-diseases/cystic- fibrosis/?_kk=cystic%20fibrosis%20facts&_kt=d82f0c0c-102d-4301-b39d- a25c9942d18d&gclid=COqK5YW2ssQCFeFj7AodqywAZQhttp://www.geneticdiseasefoundation.org/genetic-diseases/cystic- fibrosis/?_kk=cystic%20fibrosis%20facts&_kt=d82f0c0c-102d-4301-b39d- a25c9942d18d&gclid=COqK5YW2ssQCFeFj7AodqywAZQ https://www.youtube.com/watch?v=_j99-xgOIaw Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations. Eudes R, Lehn P, Férec C, Mornon JP, Callebaut I. Cell Mol Life Sci. 2005 Sep;62(18):2112-23Cell Mol Life Sci. 2005 Sep;62(18):2112-23 http://ghr.nlm.nih.gov/gene/CFTR

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