cystic fibrosis is a fatal genetic disease
cystic fibrosis is a fatal, genetic disease that affects roughly one in every 3,600 children in the country,
according to cystic fibrosis canada
. the disease, which can occur when a child inherits an abnormal cftr gene from each parent, targets the digestive system and lungs, with the persistence and severity of infection varying from patient to patient.
the multi-system disorder results in symptoms that include a persistent cough with thick mucus, wheezing and shortness of breath, salty tasting sweat and frequent chest infections. sustained damage and a loss of lung function caused by these infections eventually leads to death in the majority of patients.
with around 2,000 known mutations of the cftr gene leading to cystic fibrosis, treatment of the disease is often tailored to a specific patient’s profile. while some of these therapies have been remarkably successful at restoring the proper function of the cftr protein, they do not always achieve the same results in other patients.
to better understand the mechanisms underlying cystic fibrosis, researchers built on technology they designed in 2014 that allowed them to screen a vast amount of membrane proteins that interact with the cftr protein. “the earlier design was array-based, and we could only screen about 200 proteins at a time,” stagljar said. “with this new technology, we’ve introduced several changes that allow us to screen thousands of protein targets simultaneously, in a pooled manner.”
this helped them identify a group of overlooked membrane proteins, including some that may factor into cftr function and cystic fibrosis. one protein in particular, which is believed to play a role in hepatitis, liver disease and immune function, caught their attention. downregulation of this protein, known as fibrinogen-like 2 protein — resulted in the increased expression of cftr in 3d
in vitro
models used by researchers.
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