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The Search for Genetic Polymorphisms of Human Biogenic-Amine Related Enzymes

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The Impact of Biology on Modern Psychiatry

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Abstract

Genetic studies have provided some of the most convincing evidence of biological contributions to the etiology of severe mental illness (1). Both manic-depressive illness and schizophrenia appear to have large genetic components in their etiology, though nongenetic factors are clearly important too (2,3). As the role of genetic factors becomes increasingly clear and scientifically well-founded, the next challenge becomes the elucidation of the mechanism of genetic transmission. Some aspect of physiology or biochemistry must be altered in an individual who carries the genetic predisposition to a mental illness. This genetically-based alteration, if identified, could conceivably someday serve as a “genetic marker” for mental illness, and allow medicine to concentrate its preventive efforts on those individuals who are genetically at risk. An analogy can be found in the disease favism, caused by a defect in the enzyme glucose-6-phosphate dehydrogenase (G6PD) (4). The enzyme is often assayed in screening programs of populations at risk, and affected individuals are advised on proper dietary avoidances. Favism provides an analogy for another important point relating to schizophrenia and manic-depressive illness, in that not all individuals with the abnormal gene for favism develop symptoms of the illness (5). The gene for favism is inherited as a simple X-linked recessive, but ingestion of special foods or other environmental circumstances are necessary to provoke the symptoms of hemolytic anemia in an individual carrying the gene. It is clear that not all individuals genetically at risk for schizophrenia or manic-depressive illness develop these illnesses (1,2). A third to two-thirds of monozygotic cotwins of schizophrenics are not schizophrenic (2,6), though they are of course genetically identical in every way to their siblings. The search for genetic markers of schizophrenia and manic-depressive illness does not contradict the importance of environmental factors in enhancing or inhibiting the expression of abnormal genes.

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Authors and Affiliations

  1. Jerusalem Mental Health Center, P.O.B. 140, Jerusalem, Israel

    Robert H. Belmaker & Richard P. Ebstein

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  1. Robert H. Belmaker
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  2. Richard P. Ebstein
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Editors and Affiliations

  1. National Institute of Mental Health, Bethesda, Maryland, USA

    Elliot S. Gershon M.D.

  2. Jerusalem Mental Health Center Ezrath Nashim, Jerusalem, Israel

    Robert H. Belmaker M. D.  & Milton Rosenbaum M. D.  & 

  3. Harvard Medical School, Boston, Massachusetts, USA

    Seymour S. Kety M. D.

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© 1977 Plenum Press, New York

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Belmaker, R.H., Ebstein, R.P. (1977). The Search for Genetic Polymorphisms of Human Biogenic-Amine Related Enzymes. In: Gershon, E.S., Belmaker, R.H., Kety, S.S., Rosenbaum, M. (eds) The Impact of Biology on Modern Psychiatry. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-0778-5_18

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  • DOI: https://doi.org/10.1007/978-1-4684-0778-5_18

  • Publisher Name: Springer, Boston, MA

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