NUDT15

From WikiMD's Medical Encyclopedia

NUDT15 or Nudix Hydrolase 15 is a protein that in humans is encoded by the NUDT15 gene. NUDT15 is an enzyme that plays a crucial role in the metabolism of thiopurine, a class of drugs widely used in the treatment of various diseases such as leukemia, inflammatory bowel disease, and autoimmune disorders.

Function[edit]

NUDT15 is responsible for the conversion of active thiopurine metabolites into their inactive form, thereby regulating the cytotoxic effects of thiopurine drugs. Variations in the NUDT15 gene can affect the enzyme's activity, leading to an increased risk of thiopurine-induced toxicity.

Clinical Significance[edit]

Several studies have shown that certain genetic variants of NUDT15 are associated with an increased risk of thiopurine-induced myelosuppression, a condition characterized by a decrease in the production of blood cells. This can lead to severe complications such as neutropenia, anemia, and thrombocytopenia.

Patients with these variants require a lower dose of thiopurine drugs to avoid toxicity. Therefore, genetic testing for NUDT15 variants is recommended before starting thiopurine therapy.

Genetic Testing[edit]

Genetic testing for NUDT15 variants can help in predicting the risk of thiopurine-induced myelosuppression. It can guide clinicians in determining the appropriate dose of thiopurine drugs, thereby minimizing the risk of toxicity.

See Also[edit]

References[edit]

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