Abstract
Giant axonal neuropathy (GAN) is a severe childhood disease affecting the peripheral and central nervous systems. It is characterized by segmental axonal ballooning due to large neurofilament masses, and abnormal aggregates of filaments in a variety of other cell types. Recently, I described a new technique for visualization of cytoskeletal components in cultured fibroblasts with the arylmethane dye coomassie blue R250 (Cell Blol Int Rep 4: 149, 1980). Application of this technique to skin fibroblasts cultured from two patients with GAN revealed in 90 to 95 per cent of cells large cytoplasmic clumps of filaments which had the immunochemical and cytochemical characteristics of intermediate (8-10 nm) filaments. Besides providing definitive evidence for a genetic etiology for GAN, these fibroblast abnormalities should prove to be a simple and useful handle for prenatal diagnosis and, for investigations of the pathogenesis of this disease. Moreover, they may provide a unique opportunity to unravel the assembly mechanisms and determine the cellular functions of intermediate filaments.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pena, S., Scriver, C. 1599 IDENTIFICATION OF INTERMEDIATE FILAMENT AGGREGATES IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH GIANT AXONAL NEUROPATHY. Pediatr Res 15 (Suppl 4), 709 (1981). https://doi.org/10.1203/00006450-198104001-01616
Issue Date:
DOI: https://doi.org/10.1203/00006450-198104001-01616