As cells get older, their ability to make these molecules declines due to various physiological changes like increased cell division, changes in metabolism, and cell death. If there is a malfunction of these processes, as with a genetic defect or in the presence of a defect in a cellular membrane system, it can lead to a range of symptoms and health problems. The normal and abnormal expression of CFTR results in multiple forms of CFTR that are linked in complex and highly specific manner to mutations at one or more sites in the genome. The mutations are either located in the active site of the enzyme or in the inactive site. The most common mutations are found in the active site of the active CFTR gene. CGH2-H2T2R is located at the position 437, 553, and 554 of the CFTR-HTR1 sequence. The mutations are often associated with other, non-CFTR related problems. Although the flavoxate hcl highly specific, not all people with CF have these mutations.
In some cases, the CFTR mutation also appears to affect the activity of other CFTR gene mutations. Some cases that can cause other types of activity involve mutations located in either active or inactive sites. These mutations have different effects on CFTR activity.
In one study, patients with mutations at this site were able to produce more activity of the inactive form of the CFTR gene than those with non-mutant mutations at this site. There are a number of different therapeutic approaches that attempt to alter the abnormal activity of the CFTR pathway. Most of these approaches work very slowly. They do not work for people with CF who have very severe brain damage. They have shown that these treatments may be effective, however, they do not work for people who are otherwise healthy. The drug would target the active CFTR site in the CFTR gene. The drug will be tested in an experimental trial for CFTR-related seizures and the side effect of this experimental trial is an increased activity of the inactive CFTR form.