Gen TPMT en la práctica clínica: transformando la investigación a la aplicación clínica

Kelly Franco-Bustamante; Julio A. Poterico; Gioconda Manassero-Morales

doi:10.59594/iicqp.2024.v2n2.105

Authors

Kelly Franco-Bustamante Universidad Nacional Mayor de San Marcos, Lima, Perú https://orcid.org/0000-0002-7480-4832
Julio A. Poterico Facultad de Medicina Humana, Universidad de Piura, Lima, Perú https://orcid.org/0000-0001-7838-3505
Gioconda Manassero-Morales Instituto de Medicina Genética, Lima, Perú https://orcid.org/0000-0002-0466-8548

DOI:

https://doi.org/10.59594/iicqp.2024.v2n2.105

Abstract

I would like to take this opportunity to emphasize the significance of pharmacogenetic variation in TPMT, the gene encoding thiopurine methyltransferase (TPMT). This enzyme is responsible for metabolizing thiopurine drugs, which are widely used in clinical practice, particularly for treating leukemias, autoimmune diseases, and preventing transplant rejection. TPMT enzyme activity varies among individuals based on their genotype. Some individuals carry genetic variants that result in low or no enzyme activity, while others exhibit intermediate activity, and some maintain normal levels. Patients with low TPMT activity are at an increased risk of severe adverse drug reactions (ADRs), such as myelosuppression and hepatotoxicity.

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References

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