CF Awareness Month: Day 5 (You may want to have a cup of coffee before you tackle this one) The CF gene, located on chromosome 7, was first identified in 1989 and is thousands of years old. While over 1,800 mutations of this gene have been described, most are very rare. Over 80% of CF patients in the US have at least one copy of the DeltaF508 (∆F508 for short) mutation. This mutation results in a deletion of three base pairs in the gene, causing a loss of an amino acid, phenylalanine, in the CF transmembrane regulator protein. Patients with two copies of the DeltaF508 mutation (more than half of them) are known as homozygous. THAT was a mouth full!!! Still with me?? Good. It gets even more complex. Mutations are grouped into 6 classes depending on the effect that it has on the proteins and ion channels within the cells. Typically a Class 1 mutation causes the most severe symptoms and a Class 6 mutation causes the more mild or atypical CF symptoms. DeltaF508 is a Class 2 mutation. But wait... Theres more!!! You could literally have 100 patients ALL with the same exact mutations in one room and they could all have different symptoms and severity. How is this possible?? One reason is something called gene modifiers. These are individual to each person. You know how some people just seem to catch EVERYTHING thats going around and some of us dont ever seem to get sick?? Those that are always sick could be genetically predisposed to be more susceptible to certain viruses and infections (and even cancers!) Thats the idea behind modifier genes. They can make some patients more susceptible to different aspects of the CF disease process (lung infections, pancreatic function decline, diabetes, liver disease... Etc) So what does that all mean?? It means that CF is a daily reminder to live each day in the present. This is a disease that is so unpredictable its ridiculous. What a great reminder that we really, truly, are NOT in control. :)
Posted on: Mon, 05 May 2014 15:22:43 +0000
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