Cystic Fibrosis

Rob Krug

HOW DOES IT OCCUR?CF is caused by a mutation in the gene “cystic fibrosis transmembrane conductance regulator” (CFTR).

This gene is important in creating sweat, digestive juices and mucus.

Most people without Cystic Fibrosis have two working copies of the CFTR gene, but only one is needed to prevent cystic fibrosis.

Cystic Fibrosis develops when neither allele can produce a functional CFTR protein.

History of Cystic Fibrosis

Cystic fibrosis was recognized as specific disorder during the 1930s.

In 1988 the first mutation for Cystic Fibrosis was discovered by Francis Collins, Lap-Chee Tsui and John R. Riordan.

Because mutations in the CFTR gene are small, “classical genetics” techniques had been unable to accurately pinpoint the mutated gene.

Inheritance

  

Cystic fibrosis is autosomal recessive.

Type of Mutation

Cystic Fibrosis is a genetic mutation.

Effects• Causes problems in the lungs because mucus builds up and gets stuck in the airways.

• Causes the secretions of the pancreas to become thick.

• Thickened secretions can also clog the bile ducts of the liver and gallbladder.

• Thick secretions form in the intestines causing a dangerous blockage of the intestines called a meconium ileus.

• Men are almost always infertile because the secretions in the sperm canal cause a blockage that prevents sperm from getting through.

• Women are often able to conceive but may have decreased fertility because of cervical mucus blocking the entry of sperm.

Diagnosis• Newborn Screening

• Sweat Testing

• Genetic Testing

Treatments• Antibiotics to treat lung disease

• Mechanical techniques

• Lung transplantation

• Gene therapy

Bibliography

“CYSTIC FIBROSIS; CF.” OMIM. Johns Hopkins University, 2009. Web. 9 Nov. 2009. <http://www.ncbi.nlm.nih.gov/ entrez/ dispomim.cgi?id=219700>.“DESCRIPTION .” OMIM. Johns Hopkins University, 2009. Web. 9 Nov. 2009. <http://www.ncbi.nlm.nih.gov/ entrez/ dispomim.cgi?id=219700&blnShowBack=True&idContentType=767>.“New Statistics Show CF Patients Living Longer.” Cystic Fibrosis Foundation . Cystic Fibrosis Foundation , 26 Apr. 2006. Web. 9 Nov. 2009. <http://www.cff.org/ aboutCFFoundation/ NewsEvents/ 2006NewsArchive/ index.cfm?ID=2711&TYPE=1132>.