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The Genetic Disease, Hypoascorbemia: A Fresh Approach to an Ancient Disease and Some of its Medical Implications

Published online by Cambridge University Press:  01 August 2014

Irwin Stone
Irwin Stone*
Affiliation:
Staten Island, New York

Summary

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It has been recently shown that the human requirement for exogenous ascorbic acid and the disease, scurvy, are the result of a typical genetic disease syndrome caused by a defect on the gene controlling the synthesis of the enzyme protein, L-gulonolactone oxidase. The lack of this active enzyme in the human liver prevents Man from producing his own ascorbic acid; a synthesis which is regularly carried out by nearly all other mammals. This genetic disease has been named, Hypoascorbemia. This new concept of the genetic etiology of scurvy gives a much broader outlook and opens perspectives which were lacking in the previous fifty year old nutritional or trace “vitamin C” hypothesis. “Correction” of this genetic defect in Man is now possible since the availability of ascorbic acid in large quantities. By “correction” is meant the long-term administration of ascorbic acid in the large amounts the human liver would be synthesizing had this genetic defect not occurred. The mammals have long used the increased liver biosynthesis of ascorbic acid, under stress, to maintain homeostasis. The genetic defect prevents Humans from utilizing this important mammalian biochemical protective mechanism. Supplying exogenous ascorbic acid at the proper high dosage for full “correction” is merely duplicating a normal mammalian reaction. The medical implications of the full “correction” of this genetic disease are discussed and speculations on the effects of “correction” in the rheumatoid diseases, cardiovascular conditions, strokes, cancer and the aging process are extrapolated from the meager data already in the medical literature. This paper is mainly a plea for more thought along the medical possibilities opened by this new concept and for more clinical tests based on the rationales derived from the genetic disease viewpoint.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 1 , January 1967 , pp. 52 - 62
Copyright
Copyright © The International Society for Twin Studies 1967

References

Literature

Abt, A. F., Farmer, C. J. 1938. Vitamin C - pharmacology and therapeutics. J. Amer. Med. Ass., 111: 1555.Google Scholar
Amato, G. (1937). Action of ascorbic acid on rabies virus and tetanus toxin. G. Batt. Virol. Immun., 19: 843.Google Scholar
Antes, S., Molo, C. (1939). The C balance in tumor disease. Schweiz. Med. Wschr., 69: 619.Google Scholar
Bjorksten, J. (1962). Present status of our chemical knowledge. J. Amer. Geriat. Soc., 10: 125.Google Scholar
Bourne, G. H. (1949). Vitamin C and immunity. Brit. J. Nutrit., 2: 341.CrossRefGoogle Scholar
Boyland, E., Grover, P. L. (1961). Stimulation of ascorbic acid synthesis and excretion by carcinogenic and other foreign compounds. Biochem. J., 81: 163.Google Scholar
Cass, L. J. et al. (1954). Chronic disease and vitamin C. Geriatrics, 9: 375.Google ScholarPubMed
Demole, V. (1934). On the physiological action of ascorbic acid and some related compounds. Biochem. J., 28:770.Google Scholar
Gaehtgens, G. (1938). Vitamin C deficit in gynecological cancer. Zbl. Gynack., 62: 1874.Google Scholar
Glueoksohn-Waelsch, S. (1963). Lethal genes and analysis of differentiation. Science, 142: 1269.Google Scholar
Greer, E. (1955). Vitamin C in acute poliomyelitis. Med. Times, 83: 1160.Google Scholar
Griebel, C. R. (1939). Vitamine C im Krankheitgeschehen. Hals. Arzt., 30: 275.Google Scholar
Harman, M. T., Gillum, I. (1937). Further observations on reproduction in guinea pigs fed vitamin C at different levels. Trans. Kansas Acad. Sci., 40: 369.Google Scholar
Harman, M. T. Warren, L. E. (1951). Some embryological aspects of vitamin C deficiency in the guinea pig. Trans. Kansas Acad. Sci., 54: 42.Google Scholar
Holden, M., Molloy, E. (1937). Further experiments on inactivation of herpes virus by vitamin C. J. Immun., 33: 251.Google Scholar
Holden, M. Resnick, R. J. (1936). In vitro action of synthetic vitamin C on herpes virus. J. Immun., 31: 455.Google Scholar
Ingier, A. (1915). A study of Barlow's disease experimentally produced in fetal and new born guinea pigs. J. Exp. Med., 24: 525.Google Scholar
Jungeblut, C. W. (1935). Inactivation of polio virus in vitro by crystalline vitamin C. J. Exp. Med., 62: 517.Google Scholar
Kieckbusch, W. et al. (1963). Investigation on the chronic toxicity of ascorbic acid in the rat. Z. Ernaehrungswiss., 4: 5.Google Scholar
Klenner, F. R. (1949). The treatment of poliomyelitis and other virus diseases with vitamin C. Southern Med. Surg., 111: 209.Google Scholar
Klenner, F. R. (1951). Massive doses of vitamin C and the virus diseases. Southern Med. Surg., 113: 101.Google Scholar
Klenner, F. R. (1952). The vitamin and massage treatment for acute poliomyelitis. Southern Med. Surg., 114: 194.Google ScholarPubMed
Klenner, F. R. (1953). The use of vitamin C as an antibiotic. J. Appl. Mutr., 6: 274.Google Scholar
Kligler, I. J., Bernkopf, H. (1937). Inactivation of vaccinia virus by ascorbic acid and glutathione. Nature, 199: 965.Google Scholar
Kohn, R. R. (1963). Human aging and disease. J. Chronic Dis., 16: 5.Google Scholar
Kramer, M. M. et al. ((1933)). Disturbances of reproduction and ovarian changes in the guinea pig in relation to vitamin C deficiency. Amer. J. Physiol., 106: 611.Google Scholar
Kudlac, O., Storch, O. (1938). Uber Chemische und Klinische Untersuchungen mit Redoxon. Wien Med. Wschr., 13: 363.Google Scholar
Lamden, M. P., Schweiker, C. E. (1955). Effects of prolonged massive administration of ascorbic acid to guinea pigs. Fed. Proc, 14: 439.Google Scholar
Langenbeck, W., Enderling, A. (1937). Einfluss der Vitamine C auf das Virus der maul- und klauenseuche. Zbl. Bukt., 190: 112.Google Scholar
Lojkin, M. (1936). Tobacco mosaic virus. Contrib. Boyce Thompson Inst., 8: 4.Google Scholar
Lominski, I. (1936). Inactivation du bacteriophage par l'acide ascorbique. Compt. Rond. Soc. Biol., 122: 766.Google Scholar
Lowry, O. H. et al. (1952). Effects of prolonged high dosage with ascorbic acid. Proc. Soc. Exp. Biol. Med., 80: 361.Google Scholar
Martin, L. F. (1940). Tobacco mosaic virus. Proc. Third Internat. Congr. Microbiol., New York.Google Scholar
McCormick, W. J. (1948). Les vergetures de la grossesse et l'avitaminose C. Un. Med. Canada, 77: 916.Google Scholar
McCormick, W. J. (1954). Cancer: The preconditioning factor in pathogenesis. Arch. Pediat., 7: 313.Google Scholar
McCormick, W. J. (1959). Cancer: A collagen disease, secondary to a nutritional deficiency? Arch. Pediat., 76: 166.Google Scholar
National Research Council ((1964)a). Recommended Dietary Allowances. Sixth Revised Edition, Publ. No. 1146, Washington, D. C., page 24.Google Scholar
National Research Council ((1964)b). Recommended Dietary Allowances. Sixth Revised Edition, Publ. No. 1146, Washington, D. C., page VII.Google Scholar
Schneider, E., (1938). Die Rückwirkung der Krebskrankheit auf den Vitaminhaushalt. Arch. Klin. Chir., 192: 462.Google Scholar
Spellberg, M. A., Keeton, R. W. (1939). Excretion of ascorbic acid in relation to saturation and utilization. Arch. Int. Med., 63: 1095.Google Scholar
Steven, F. S. (1965). Evidence for the chemical modification of collagen in rheumatoid arthritis. Ann. Rheum. Dis., 24: 473.Google Scholar
Stone, I. (1965). Studies of a mammalian enzyme system for producing evolutionary evidence on Man. Amer. J. Phys. Anthrop., 23: 83.Google Scholar
Stone, I. (1966). On the genetic etiology of scurvy. A.Ge.Me.Ge., XV: 3.Google Scholar
Vogt, A. (1939). Vitamin C utilization in tumor patients and in patients suffering from lymphogranuloma. Strahlentherapie, 65: 616.Google Scholar
Warren, F. L. (1943). Aerobic oxidation of aromatic hydrocarbons in the presence of ascorbic acid. The reaction with anthracene and 3:4-benzpyrene. Biochem. J., 37: 338.Google Scholar