Genetic Disorders

Question 1

What is the most common variant that causes disease?

Answer 1

SNVs (single nucleotide variants)

Question 2

What is CFTR?

Answer 2

CFTR is an anion channel that transports Cl- and HCO3-. It is a member of the ATP-binding cassette (ABC) family of transporters, and opens when phosphorylated on its regulatory (‘R’) domain by protein kinase A.
CFTR is expressed in a multitude of tissues, generally those that produce mucus, but most prominent clinically are the lung epithelium and the pancreas.

Question 3

What does dysfunction of CFTR cause?

Answer 3

Dysfunction of CFTR causes pathological changes to the secreted mucus, destroying the periciliary layer and therefore decreasing mucociliary transport

Question 4

What are the symptoms of CF?

Answer 4

Class II is most common

Question 5

What are Lgr5+ stem cells?

Answer 5

live at the base of intestinal crypts and are sensitive to multiple developmental signalling pathways: RTK, BMP, Notch, and Wnt, and have long been thought to be “cells-of- origin” for CRC