Related Experiment Video
Updated: Jun 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
N-acetyltransferase Gene Variants Involved in Pediatric Idiosyncratic Drug-Induced Liver Injury
María Luisa Alés-Palmer1,2, Francisco Andújar-Vera3, Iván Iglesias-Baena4
1Department of Pediatrics, University of Granada, 18016 Granada, Spain.
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.
More Related Videos
Related Concept Videos
Phase II Reactions: Acetylation Reactions
The substrates for acetylation are typically drugs or their metabolites with an amino, sulfonamide, or hydrazine functional group. Acetylation can occur at several points in the drug molecule, including primary, secondary, and...
Inborn Errors of Metabolism

