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On the molecular basis of Sandhoff's disease

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Summary

The results of Hooghwinkel et al. (1972) concerning the existence of a third human N-acetylhexosaminidase, designated C, are confirmed. This hexosaminidase exhibits low activity and has therefore generally been overlooked until now. We suggest that the hexosaminidase A represents a heteromer consisting of B- and C-subunits. According to this assumption Sandhoff's disease would reflect a defect at the hexosaminidase B-locus, whereas Tay-Sachs' disease would be attributable to deficient C-subunits.

Zusammenfassung

Hooghwinkel et al. (1972) beschrieben kürzlich eine dritte N-acetyl-Hexosaminidase im menschlichen Gehirn. Diese Hexosaminidase C haben wir elektrophoretisch in Fibroblasten, Leukocyten und Gehirngewebe nachgewiesen. In Fibroblasten eines Patienten mit Sandhoffscher Krankheit erschien ihre Aktivität deutlich vermehrt. Wir sind der Ansicht, daß es sich bei der Hexosaminidase A um ein Heteromer aus B- und C-Untereinheiten handeln könnte; demnach wäre die Sandhoffsche Krankheit durch einen Defekt am Hexosaminidase B-Locus bedingt, während bei Tay-Sachs-Kranken C-Untereinheiten fehlten.

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References

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Authors and Affiliations

  1. Institut für Humangenetik und Anthropologie der Universität, Freiburg i. Br.

    H. -H. Ropers & U. Schwantes

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  1. H. -H. Ropers
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  2. U. Schwantes
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Supported by the Deutsche Forschungsgemeinschaft.

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Ropers, H.H., Schwantes, U. On the molecular basis of Sandhoff's disease. Humangenetik 20, 167–170 (1973). https://doi.org/10.1007/BF00284854

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  • DOI: https://doi.org/10.1007/BF00284854

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