N-acetyltransferase Gene Variants Involved in Pediatric Idiosyncratic Drug-Induced Liver Injury

TL;DR

This study finds that variations in the NAT2 gene are common in children with drug-induced liver injury, suggesting a role in how drugs are processed in the body.

Contribution

The study identifies specific NAT2 gene variants as potential risk factors for pediatric DILI.

Findings

Two NAT2 gene variations (c.590G>A and c.341T>C) were found in 41 out of 43 pediatric DILI patients.

These variations may influence susceptibility to drug-induced liver injury through the acetylation pathway.

Abstract

Idiosyncratic drug-induced liver injury (DILI) is a complex multifactorial disease in which the toxic potential of the drug, together with genetic and acquired factors and deficiencies in adaptive processes, which limit the extent of damage, may determine susceptibility and make individuals unique in their development of hepatotoxicity. In our study, we sequenced the exomes of 43 pediatric patients diagnosed with DILI to identify important gene variations associated with this pathology. The result showed the presence of two variations in the NAT2 gene: c.590G>A (p.Arg197Gln) and c.341T>C (p.Ile114Thr). These variations could be found separately or together in 41 of the 43 patients studied. The presence of these variations as a risk factor for DILI could confirm the importance of the acetylation pathway in drug metabolism.

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