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Previous Volume 335:1770-1771 December 5, 1996 Number 23 Next

Retinitis Pigmentosa and Ataxia Caused by a Mutation in the Gene for the -Tocopherol–Transfer Protein

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To the Editor: The -tocopherol–transfer protein (-TTP) is presumed to function in the intracellular transport of -tocopherol, the most biologically active form of vitamin E. We described a patient with adult-onset Friedreich's ataxia in whom a mutation of the -TTP gene causing the substitution of glutamine for histidine in the protein resulted in vitamin E deficiency (Nov. 16, 1995, issue).¹ Experiments in animals have shown that diets deficient in vitamin E cause retinitis pigmentosa.² We therefore studied the -TTP genes of two unrelated patients, a 60-year-old woman and a 47-year-old man, who had autosomal recessive retinitis pigmentosa and low . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Morley, S., Cecchini, M., Zhang, W., Virgulti, A., Noy, N., Atkinson, J., Manor, D. (2008). Mechanisms of Ligand Transfer by the Hepatic Tocopherol Transfer Protein. J. Biol. Chem. 283: 17797-17804 [Abstract] [Full Text]  
• Yokota, T., Igarashi, K., Uchihara, T., Jishage, K.-i., Tomita, H., Inaba, A., Li, Y., Arita, M., Suzuki, H., Mizusawa, H., Arai, H. (2001). From the Cover: Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: Model for neuronal degeneration caused by chronic oxidative stress. Proc. Natl. Acad. Sci. USA 98: 15185-15190 [Abstract] [Full Text]  
• Yokota, T, Uchihara, T, Kumagai, J, Shiojiri, T, Pang, J J, Arita, M, Arai, H, Hayashi, M, Kiyosawa, M, Okeda, R, Mizusawa, H (2000). Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha -tocopherol transfer protein gene. J. Neurol. Neurosurg. Psychiatry 68: 521-525 [Abstract] [Full Text]