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Types of enzymatic overdosing in trisomy 21: Erythrocytic superoxide dismutase-AJ and phosphoglucomutase

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Summary

A comparative study was carried out on the hemolysates of 6 trisomic 21 and 6 normal subjects, by electrophoresis in starch gel, determining by a combined staining method both SOD-A (former IPO-dimer) and PGM activity. The enzymes were found statistically to be in a hyperactive status, the ratio of trisomic to normal values being approximately equal to 1.4.

SOD-A supraactivation is the effect of a genic dose, as demonstrated in earlier works (Sichitiu, 1973; Sichitiu et al., 1974; Sinet et al., 1974), whereas PGM hyperactivity appears to be modified secondarily, the same as the activity of other cellular enzymes in Down's disease.

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Prişcu, R., Sichitiu, S. Types of enzymatic overdosing in trisomy 21: Erythrocytic superoxide dismutase-AJ and phosphoglucomutase. Hum Genet 29, 79–83 (1975). https://doi.org/10.1007/BF00273353

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Keywords

  • Starch
  • Internal Medicine
  • Superoxide
  • Metabolic Disease
  • Staining Method