AI Article Synopsis
- Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to low zinc levels in breast milk, which can be linked to mutations in the ZNT2 gene responsible for zinc transport.
- The study focused on three Japanese mothers with infants affected by TNZD, using sequencing to identify genetic mutations affecting zinc levels.
- Novel mutations were found, including a missense mutation impacting zinc transport and others in the regulatory region, offering new insights into the genetic causes of TNZD in breastfeeding.
Article Abstract
Importance: Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk zinc levels. Mutations in the solute carrier family 30 member 2 () gene, which encodes the zinc transporter ZNT2, cause low zinc concentration in breast milk.
Objective: This study aimed to provide further insights into TNZD pathophysiology.
Methods: sequencing was performed in three unrelated Japanese mothers, whose infants developed TNZD due to low-zinc milk consumption. The effects of the identified mutations were examined using cell-based assays and luciferase reporter analysis.
Results: Novel mutations were identified in each mother. One harbored a heterozygous missense mutation in the ZNT2 zinc-binding site, which resulted in defective zinc transport. The other two mothers exhibited multiple heterozygous mutations in the promoter, the first mutations in the regulatory region reported to date.
Interpretation: This report provides new genetic insights into TNZD pathogenesis in breastfed infants.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030689 | PMC |
| http://dx.doi.org/10.1002/ped4.12366 | DOI Listing |
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