Light and Electron Microscopic Studies on Subunit c in Cultured Fibroblasts in Late Infantile and Juvenile Batten Disease

Abstract

Immunohistochemical and ultrastructural studies were undertaken to determine whether accumulation of subunit c of mitochondrial ATP synthase could be detected microscopically in fibroblasts cultured from patients with late infantile and with juvenile Batten disease. Cells were grown for five weeks with and without colchicine to inhibit cell division, and were studied grown on slides, as cytospin preparations or as centrifuged pellets. The two different immunohistochemical detection methods used (peroxidase/DAB and immunogoldsilver) gave different results, but neither method indicated any accumulation of subunit c. There was no ultrastructural or electronhistochemical evidence of storage. The published biochemical results which give apparently conflicting evidence of excess amounts of subunit c in cultured fibroblasts can be explained by quantitative differences and sensitivity of the detection methods.

Key words

Batten disease - Neuronal ceroid lipofuscinosis - Fibroblast culture - Immunohistochemistry - Electron microscopy