Research for transgenic mouse of retinitis pigmentosa with vitamin E deficiency

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1) Alpha-tocopherol transfer protein knockout mouseWe finished making mouse in which alpha-tocopherol transfer protein gene was deleted. Now, we are investigating pathology of central nervous system, retina, and their functions using somatosensory evoked potentials and retinograms.2) Distribution of alpha-tocopherol transfer proteinWe identify the expression of alpha-tocopherol transfer protein in retina, cerebellum, spinal cord by Northern blot. Furthermore in situ hybridization technique demonstrated that the local expression of the protein in the Bergmann glia in cerebellum. There was no expression in dorsal root ganglia, or peripheral nervous system.3) Investigation on autopsy of patient with mutant alpha-tocopherol transfer protein geneThe major pathological findings were retinal atrophy ; severe degeneration of the dying back-type in the posterior column ; and massive accumulation of ceroid-lipofuscin in neurons including dorsal root ganglion (DRG) cells. In addition, mild loss of Purkinje cells was noted. In the DRG, thought to be mainly responsible for ataxia, no expression of alpha-tocopherol transfer protein was detected, and the tissue concentration of vitamin E increased to normal after supplementation. We therefore concluded that oral supplementation of vitamin E should effectively counteract the progression of ataxia.