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Disassembly of microtubules in the lesch-nyhan syndrome?

Assoziationsstörung für Mikrotubuli beim Lesch-Nyhan Syndrom? (Lesch-Nyhan Syndrom und Mikrotubuli)

Lesch-nyhan syndrome and microtubules

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Zusammenfassung

Das Lesch-Nyhan Syndrom ist ein ungewöhnliches Krankheitsbild. Es verbindet neurologische Symptomatik mit Verhaltensstörungen, Stoffwechselveränderungen und hämatologischen Symptomen. Das Syndrom ist durch einen X-chromosomal vererbten Enzymdefekt im „salvage pathway“ des Purinstoffwechsels charakterisiert. Die bisher völlig ungeklärte Pathogenese war Anlaß zu metabolischen und morphologischen Untersuchungen an den Blutzellen eines Patienten mit diesem Syndrom. Zusammen mit der genetisch bedingten Störung im Guanin-Nukleotidstoffwechsel konnte ein weitgehendes Fehlen der Mikrotubuli in den Blutplättchen und eine Sphärozytose der Erythrozyten nachgewiesen werden. Diese Veränderungen sind offenbar Folge einer Assoziationsstörung für Strukturproteine. Auch die Ausbildung und Aufrechterhaltung der hochgradig heteromorphen Struktur von Nervenzellen und ihre Funktion mit axonalem Transport von Zellorganellen und Neurotransmitterstoffen ist von mikrotubulären Strukturproteinen abhängig. Eine Assoziationsstörung von Mikrotubuli könnte damit den der Pathogenese dieses komplexen Syndroms zugrunde liegenden Mechanismus darstellen.

Summary

The Lesch-Nyhan syndrome is an unusual disease. It combines neurological disorders, behavioural disturbances, metabolic changes and haematological symptoms. The syndrome is caused by an X-chromosomal transmitted enzyme deficiency of the ‘salvage pathway’ in purine metabolism. The hitherto unexplained pathogenesis was the reason for investigations into metabolism and morphology of the blood cells of a patient suffering from the syndrome. Along with the defect in guanine nucleotide resynthesis there was a defect of microtubules in platelets and a sphaerocytosis in red cells, which could be the result of a disassembly of structural proteins. The development and maintenance of the highly heteromorphic structure of nerve cells and the neuronal function including axonal transport of cell organelles and transmitters is dependent on microtubules. Thus a disassembly of microtubules could be the mechanism in the pathogenesis of this complex syndrome.

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  1. Medizinische Klinik A der Universität Düsseldorf und Fachrichtung Medizinische Biologie der Universität des Saarlandes in Homburg/Saar, Germany

    W. Schneider, E. Morgenstern & H. -J. Reimers

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  1. W. Schneider
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  2. E. Morgenstern
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  3. H. -J. Reimers
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Schneider, W., Morgenstern, E. & Reimers, H.J. Disassembly of microtubules in the lesch-nyhan syndrome?. Klin Wochenschr 57, 181–186 (1979). https://doi.org/10.1007/BF01477406

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