The present technology describes a novel genetic diagnostic method for Transient Neonatal Zinc Deficiency (TNZD) using maternal breast milk cells, for early diagnosis as well as prevention.
Zinc deficiency is very common worldwide and although actual prevalence figures are not known, it is estimated that approximately 20% of the world population is zinc deficient. The WHO estimates that approximately 800,000 deaths per year are related to zinc deficiency, over 50% of which are infants and children under five years of age. Infants exclusively breastfed with zinc-deficient milk, develop transient neonatal zinc deficiency (TNZD) due to inactivating mutations in the maternal zinc transporter SLC30A2/ZnT2. Loss of function mutations in this transporter results in an impaired transport of zinc from the mother’s blood to the milk.
The patented method herewith is based on a novel genetic tool for the identification of distinct ZnT2 mutations and genetic variants using cells isolated from breast milk at the expressed mRNA level. This technique can identify any existing alterations at the ZnT2 mRNA level when compared to genomic DNA. Furthermore, this novel diagnostic genetic technique could be easily applied for the early identification of other inborn genetic diseases such as riboflavin deficiency which is common in breastfed preterm infants that may result from mutations in the ABCG2 (BCRP) transporter that is responsible for riboflavin secretion into breast milk.
- Available- Every genetic testing center could readily perform this analysis
- Independent of lactation stage or maternal factors
Applications and Opportunities
- Early diagnosis of TNZD, resulting from mutations in the SLC30A2/ZnT2 gene
- Diagnosis of low breastmilk production at the early stages of lactation
- Diagnosis of the infectious agent causing mastitis including bacteria or fungi as well as non-infectious mastitis, hence offering a personalized treatment for individual mothers