In this study, we show that both the distribution and motility of mitochondria are altered in GAN fibroblasts and this is attributable to their association with vimentin IF aggregates and bundles.
Treatment of primary skin fibroblast cultures from three different GAN patients with an adeno-associated virus type 2 (AAV2) vector containing a normal human GAN transgene significantly reduced the number of cells displaying vimentin IF aggregates.
Giant axonal neuropathy (GAN) is a disorder characterized pathologically by distal neurofilament-filled bulbous swellings in axons, and widespread collection of intermediate filaments, including masses of vimentin filaments in cultured skin fibroblasts.