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- Cystic Fibrosis
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 Cystic fibrosis is the most common autosomal recessive genetic disease within the Caucasian population. Specific DNA changes in the CFTR (cystic fibrosis transmembrane conductance regulator) gene results in an abnormal, or non-functioning, protein. This protein is associated with the normal secretion of chloride in the lungs, pancreas and sweat glands. The abnormal protein leads to less secretion of water, resulting in a very thick mucous which contributes to increased respiratory infections (especially Staphylococcus and Pseudomonas). Other organs which are affected by the abnormal CFTR protein include the liver, salivary glands and testes.
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- Children
with mild disease often survive to adolescence or young adulthood,
when they may die of respiratory problems. Routine care involves
therapeutic treatment with antibiotics (for example, Ceftazidine
plus Amoxicillin). The gene which codes for the CFTR protein
has already been cloned and its DNA sequence determined. For
this reason, many of the DNA changes which cause an abnormal
form of the protein have been identified. Cystic fibrosis has
been one of the first diseases selected for possible curing using
gene therapy. Clinical studies are already underway attempting
to incorporate the normal gene into lung cells using a virus
vector (or transport) system.
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- At
Ixion, we are interested in the fact that many cystic fibrosis
patients have been observed to suffer hyperoxaluria, as well.
The question is whether this condition is due to an inherent
abnormal CFTR protein that interferes with oxalate excretion
or whether the routine antibiotic therapy necessary to ward off
infections eliminates Oxalobacter formigenes from the
intestines. Preliminary studies have indicated cystic fibrosis
patients with hyperoxaluria lack detectable O. formigenes.
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- Links:
- Cystic Fibrosis
101
- Health Care Information Services - Cystic
Fibrosis
- The International Cystic Fibrosis Association
- Cystic Fibrosis Foundation
- Cysticfibrosis.com
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