AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |
Back to Blog
Splice site mutation4/1/2023 Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. They can stay informed about research studies that may present more options for them 15.They can actively participate in making important decisions about their care with their doctor and healthcare team 14.As different genotypes may require different treatment approaches, they are able to seek access to treatment plans that are most appropriate for them 12,13.They may be better able to understand their CF symptoms and how their CF may progress 11.How could patients and caregivers benefit from knowing their CF genotype? 3,9 Different CFTR mutations may be classified into either high-risk or low-risk genetic groups, and therefore may help determine prognosis. 8 More than 2,000 different mutations have been identified in the CFTR gene, and different classes of mutations-depending on the extent of deficiency of CFTR protein quantity or function-can lead to variable phenotypes between different individuals. Knowing the CF genotype can help personalize CF care. Why It’s Important for Patients and Caregivers to Know Their CF Genotype Reduced amount of normal functioning CFTR protein at the cell surface because of decreased stability of matured CFTRĬFTR protein is made, localizes to the cell surface, and can open, but channel efficiency is reduced ![]() Insufficient quantity of normal CFTR protein at the cell surface due to alternative splice mutations Made, localizes to the cell surface, and can open, but channel efficiency is reduced Often called “gating mutations”-CFTR protein is made and reaches the cell surface, but the channel is rarely open Mutations cause abnormal post-translational processing and folding of the CFTR protein, preventing correct trafficking to the cell surface Mutations result in nonsense and canonical splice-site mutations, leading to complete absence of CFTR protein
0 Comments
Read More
Leave a Reply. |