A NUKLEOTID ANYAGCSERE-BETEGSEGEKROL A GENTERAPIA KORABAN

Translated title of the contribution: About disorders of nucleoside metabolism in time of gene-therapy

Research output: Contribution to journalArticle

Abstract

The discovery of an association between ADA (adenosine desaminase) deficiency and SCID (severe combined immunodeficiency disease) was entirely unexpected and identified an important enigmatic role of purine nucleoside metabolism in the development and function of the immune system. Cytotoxic effects of purine nucleotides are responsible for immune dysfunctions, but their molecular mechanism is still unclear. The cloning and sequencing of the human ADA gene in 1986 lead to the construction of a retroviral genom bearing the ADA gene, which was the first gene introduced into human marrow cells in 1990. Since that time nine ADA deficient children were treated by gene-therapy, but the enzyme level decreased after some month and the enzyme had to be substituted by PEG-ADA (Hershfield, 1994, The 8th Purine and Pyrimidine Meeting in Man, Bloomington). The main treatment is the PEG-ADA substitution for inherited deficiencies. The unknown molecular events in purine and pyrimidine metabolism in tissues with dominating salvage processes have to be elucidated. Both purine and pyrimidine nucleosides are profoundly influencing not only the immune system, but also CNS in humans. The basic molecular steps of the physiological phenomena have to be discovered to be able to construct specifically acting small molecules for pharmacologic reasons. The diagnosis of purine and pyrimidine disorders needs a special laboratory with a trained staff in this field. The Fourth Symposium of the European Society for the Purine and Pyrimidine Metabolism in Man (Nijmegen, 1993) recommended such a laboratory for each European country.

Original languageHungarian
Pages (from-to)48-57
Number of pages10
JournalOrvoskepzes
Volume70
Issue number2
Publication statusPublished - 1995

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Nucleosides
Genetic Therapy
Adenosine
Purine Nucleosides
Immune System
Pyrimidine Nucleosides
Physiological Phenomena
Genes
Purine Nucleotides
Severe Combined Immunodeficiency
Enzymes
Organism Cloning
Bone Marrow
purine
pyrimidine

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A NUKLEOTID ANYAGCSERE-BETEGSEGEKROL A GENTERAPIA KORABAN. / Staub, M.

In: Orvoskepzes, Vol. 70, No. 2, 1995, p. 48-57.

Research output: Contribution to journalArticle

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