The molecular and biochemical basis of cystic fibrosis.

A growing consensus is emerging as to the biochemical basis of cystic fibrosis, which is the most common lethal genetic disease of Caucasians. Although cystic fibrosis was probably alluded to in early European folklore (1), and was accurately described in 1938 by Andersen (2), the pathophysiological basis of the disease has eluded detection. However in recent years rapid progress has been made in understanding the genetics and biochemistry of cystic fibrosis. This reflects advances in molecular genetic techniques and increasing knowledge of the mechanisms and regulation of the secretory processes which are primarily affected in cystic fibrosis. In addition, key experiments on human exocrine and epithelial tissues have shown a consistent abnormality which is amenable to investigation by biochemical and physiological techniques. It is these aspects which are reviewed, since they are providing an impetus for research towards understanding the molecular and biochemical basis of cystic fibrosis.