cystic fibrosis

Examples of cystic fibrosis in the following topics:

• Cystic Fibrosis

  • Cystic fibrosis (CF) is an autosomal recessive disorder leading to respiratory congestion, multiple organ failure, and metabolic changes.
  • The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas.
  • CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).
  • Gene therapy has been explored as a potential cure for cystic fibrosis.
  • A graph depicting common bacteria found in the respiratory tracts of cystic fibrosis patients as a function of age.

• Biochemical Products of Recombinant DNA Technology

  • Hereditary diseases carrier diagnosis: tests now available to determine if a person is carrying the gene for cystic fibrosis, the Tay-Sachs diseases, Huntington's disease or Duchenne muscular dystrophy.
  • Gene transfer from one organism to other: the advanced gene therapy can benefit people with cystic fibrosis, vascular disease, rheumatoid arthritis and specific types of cancers.

• Protein Folding, Modification, and Targeting

  • For example, cystic fibrosis is caused by defects in a membrane-bound protein called cystic fibrosis transmembrane conductance regulator (CFTR).
  • The most common cystic fibrosis-causing mutation is the deletion of a Phe residue at position 508 in CFTR, which causes improper folding of the protein.
  • Therefore, improved understanding of protein folding may lead to new therapies for cystic fibrosis, Creutzfeldt-Jakob, and many other diseases.

• Gammaproteobacteria

  • (enteritis and typhoid fever), Yersinia pestis (plague), Vibrio cholerae (cholera), Pseudomonas aeruginosa (lung infections in hospitalized or cystic fibrosis patients), and Escherichia coli (food poisoning).

• Betaproteobacteria

  • Burkholderia is a genus of proteobacteria probably best known for its pathogenic members: Burkholderia mallei, responsible for glanders, a disease that occurs mostly in horses and related animals; Burkholderia pseudomallei, causative agent of melioidosis; and Burkholderia cepacia, an important pathogen of pulmonary infections in people with cystic fibrosis (CF).

• Biofilms and Disease

  • Biofilms are responsible for diseases such as infections in patients with cystic fibrosis, Legionnaires' disease, and otitis media.

• Anion Regulation

  • In contrast, hyperchloremia, or higher-than-normal blood chloride levels, can occur due to dehydration, excessive intake of dietary salt (NaCl) or swallowing of sea water, aspirin intoxication, congestive heart failure, and the hereditary, chronic lung disease, cystic fibrosis.
  • In people who have cystic fibrosis, chloride levels in sweat are two to five times those of normal levels; therefore, analysis of sweat is often used in the diagnosis of the disease.

• Bacterial Pneumonias

  • Exposure to birds is associated with Chlamydia psittaci; farm animals with Coxiella burnetti; aspiration of stomach contents with anaerobic organisms; and cystic fibrosis with Pseudomonas aeruginosa and Staphylococcus aureus.

• Defining Microbes

  • Biofilms, microbial communities that are very difficult to destroy, are considered responsible for diseases such as bacterial infections in patients with cystic fibrosis, Legionnaires' disease, and otitis media.

• ABC Transporters

  • ABC transporters are involved in tumor resistance, cystic fibrosis and a range of other inherited human diseases along with both bacterial (prokaryotic) and eukaryotic (including human) development of resistance to multiple drugs.