Identification of Retinoyl Complexes as the Autofluorescent Component of the Neuronal Storage Material in Batten Disease

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Abstract
Cytosomes filled with intensely fluorescent material in the form of curvilinear bodies were isolated by density gradient centrifugation followed by pronase digestion from the cerebral cortex of a child who had died at age 7 from the late infantile form of Batten disease. Forty-three percent of the dry weight of the storage material was extracted by a mixture of chloroform and methanol, leaving a waterinsoluble amorphous fluorescent residue. Infrared spectroscopy, proton magnetic resonance spectrscopy, and mass spectrometry of this residue strongly suggested the presence of retinoyl polyenes linked to a small peptide. Base hydrolysis and methanolysis yielded retinoic acid and methyl retinoate, respectively. Ozonolysis yielded a product derived from the substituted cyclohexenyl ring of vitamin A. The results indicate that the fluorescent component of the neuronal storage material is a retinoyl complex and is not derived from peroxidized polyunsatured fatty acids as previously thought.