1. Study of the treatment of cystinotic fibroblasts with cysteamine, pantethine and WR-1065. All lower cellular cystine levels. Pantethine and WR-1065 are less toxic than cysteamine. Pantethine was used in a clinical trial. 2. Efforts are being made to detect a cystine transport system in lysosomes by isolation of pure lysosomes on pecol gradients. 3. Continued study of metallothionein as a source of cystine in cystinosis. This protein contains 1/3 cysteine residues and is present in a twofold excess in cystinotic fibroblasts. 4. Continued study of a mutant mouse which stores cystine in lysosomes as do cystinotic patients. Possible anomalies in cholesterol and fatty acid metabolism are being investigated. 5. Continued study of the glutathione cycle which, when manipulated with inhibitors or stimulators, will directly vary the cystine levels in cystinotic cells. 6. Availability of diagnostic service for detection of cystinosis in new cases. 7. Inhibition of phospholipase A2 by uteroglobin was detected. 8. Acylation of membrane proteins is being investigated. 9. Study of cellagen synthesis in osteogenesis imperfecta is being initiated. 10. Teaching of tissue culture techniques and proper use of equipment to new personnel was continued.
