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Euphenics
The symptomatic treatment of genetic 3iseases of man is called home. (see A.C. hi, 1974). The euphenics deals with the control of several inherited human diseases, especially inborn errors of metabolism in which the missing or defective enzyme has been identified. One example of this is the condition known as phenylketonuria or pku, determined by an autosomal recessive gene. 13abies with this defect are unable to property metabolize an amino acid. phehylalanine, the resulting chemical imbalance causes severe mental retardation. Now it is possible to distinguish pku homozygote, from no mal individuals by testing the urine of all newborn babies with ferric chloride. In affected children, the metabolic imbalance caused by the mutation will turn the urine green. Once such a child is detected a diet free of phenylalanine ill imposed and the child can develop normally.
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Although a number of inherited diseases can be treated in a similar euphenic manner, but these constitute only a small fraction of known inherited diseases. For the most part, biochemical geneticists could not identify the biochemical errors of many diseases. In other cases, such as albinism, even though the metabolic block leading to an abnormality is known, but, it is not possible to correct it. However, in future following euphenic measures can get rid of man from certain fatal genetic diseases:
1. Intake of missing enzyme-One possible euphenic measure for the future would be to supply the known missing enzyme to individuals that would allow their cells to complete the required biochemical reaction. Some attempts to do this have been made without much success. Immunological difficulties are encountered, since the enzymes being supplied are antigenic and the body produces antibodies against them.
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2. Cure for inherited anemia-Scientists studying the twoanemias of man, Cooley's and Lepore anemias, resulting from abnormally low haemoglobin production in individuals homozygous for mutations at the beta-chain locus, hope that they may someday discover the factors regulating the beta gene activity and thereby increase the amount of beta chain synthesis. Furthermore, if the mechanism regulating haemoglobin synthesis in the faetus and the adult can be discerned, they might be able to cure lethal conditions, such as thalassemia major and sickle cell anemia, by suppressing synthesis of the abnormal beta chains and .allowing fetal or gamma chains to be produced instead. In fact, individuals have been discovered whose β chain locus for some unknown reason never become active. Such individuals function normally with fetal haemoglobin even as adults. |
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3. Aminocentesis-If a genetic disease is untreatable or causes a considerable burden to the affected individual and his or her family, there is now the possibility, in number of cases, of detecting the disease in utero early enough in pregnancy to permit an elective abortion of an abnormal fetus. Detection is accomplished through the technique of aminocentesis, in which fetal cells are withdrawn and examined by biochemical and cytological techniques.
4. Increasing role of genetics to medicine - The increasing number of human diseases that are being discovered to have a genetic basis lend great importance to the development of such euphenic measures. Three per cent of all human have hereditary diseases which are transmitted in a Mendelian fashion. Two diseases which account for the deaths of hundreds of thousands a year, cancer and heart disease, are thought to have some heritable component.
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The future works of immunogenetics can suggest the ways by which an individual having genes for cancer may develop resistance for this disease.
A recent study has shown that some forms of heart disease may be inherited as an autosomal dominant trait (L.K. Altman, 1972). An understanding of the genetic basis of such heart diseases would alert persons from families with an incidence of the disease to the possibility of incuring heart conditions and perhaps cause them to alter their diets and life habits accordingly. For example, those who may inherit genes for heart trouble would then refrain from smoking and avoid high fat diets.
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Harmful evolutionary effect of euphenics- To restore affected individuals to normalcy by euphenic measures is the only compassionate goal for scientists to maintain. But to do so is to counter the forces of natural selection that are the basis for the evolutionary strength of a species. Pku homozygotes, for example, would normally not reproduce and transmit the harmful mutations to future generations selection against them would be total; however when they do develop normally and produce progeny, every member of the next generation would be a carrier of the mutation) assuming that the wife of such person being, normal. This has to add to our genetic load and to weaken the human species from the evolutionary point of view.
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