Thiopurine drugs are metabolized, in part, by S-methylation catalyzed by thiopurine S-methyltransferase (TPMT). Patients with very low or undetectable TPMT activity are at high risk of severe, potentially fatal hematopoietic toxicity when they are treated with standard doses of thiopurines. As human TPMT activity is controlled by a common genetic polymorphism, it is an excellent candidate for the clinical application of pharmacogenetics.
In the European Journal of Human Genetics (Vol. 14, pp. 991-998), a group of researches led by Dr. T. V. Nasedkina report a new molecular approach developed to detect point mutations in the TPMT gene that cause the loss of TPMT activity.
Dr. T. V. Nasedkina, Engelhardt Institute of Molecular Biology, 32 Vavilov St, Moscow 119991, Russia.
Abstract available online.
(C) European Journal of Human Genetics.
Posted by: Tressie Dalaya
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