RNA Methylation—A Possible Genetic Marker in Cystic Fibrosis

Cystic fibrosis (CF) of the pancreas was initially thought to be an inborn error of metabolism affecting only exocrine tissue. In 1969, the demonstration by Danes and Bearn1 of metachromasia in cultivated fibroblasts obtained from patients with CF gave experimental support to the hypothesis that all CF cells reflect the basic biochemical defect. After this initial report several investigators observed that tissue cultured cells from some patients with CF and heterozygotes accumulated increased quantities of acid mucopolysaccharides and glycogen. No basic defect in these cell culture systems has been identified. No definitive test for the detection of the heterozygote state is available. See table in the PDF file