The expression of inherited metabolic disease in cultured cells.

Since 1900 improvements in general hygiene, and the development of antibiotic therapy 
have enabled many of the epidemic infectious diseases, particularly those of 
infancy and early childhood, increasingly to be controlled. In contrast, the 
morbidity and mortality of diseases of genetic origin have been little 
affected. The rational use of cell culture as an investigative technique 
in inherited metabolic disease is rooted in the simple biologic truth 
that, since a full complement of chromosomes is present in all 
somatic cells, it should be possible to detect the specific biochemical 
consequences of gene activity in cultured fibroblasts unless, during the process 
of differentiation, genes are irreversibly inactivated. The usefulness of tissue culture 
in investigating inherited metabolic disease does not rest with the biochemical 
identification of the primary defect. The cells in culture provide a 
model system of the disease, which can be used to test 
the possible effectiveness of therapeutic agents. Tissue culture techniques indicated that 
the cells derived from patients with cystic fibrosis showed metachromasia. Although 
the isolation and characterization of cystic fibrosis from cystic fibrosis serum 
has not been accomplished, a number of properties have been described. 
