ABSTRACT
Cystic brosis (CF) is an autosomal recessive lethal disease caused by mutations in the cystic brosis transmembrane conductance regulator (CFTR) (ABCC7) gene located on the seventh chromosome. It aects 1 in 2500-4500 newborns among Caucasians. e clinical entity was recognized for the rst time in 1938 as a CF of the pancreas by Dorothy Hansine Andersen.1 e rst linkage between CF and a genetic marker, indicating that only one locus existed for CF, was established in 1985.2 e CFTR gene and its main mutation F508del were identied in 1989 by Francis Collins, Lap-Chee Tsui, and John R. Riordan.3 Subsequent research has found over 1900 dierent mutations, but less than 150 are actually known to cause CF. Current therapies treat the symptoms of the disease. However, a better understanding of the mechanisms of CFTR mutations now points to novel, mutation-targeted strategies correcting the underlying basic defects responsible for CFTR protein loss of function. is is because recent ndings have helped to decipher the complex biogenesis and function of the wild-type protein.
