Study of the expression profile of the UGT1A1 gene in neonatal jaundice patients

Abstract

Diseases are either caused due to a genetic defect or physiological defects, however certain pathological disorders such as neonatal jaundice is a product of intereliant working of both these causal factors. The disease is characterized by hyperbillirubinemia and subsequent yellowing of the skin of the patient. The etiological causes are more related to the genetic and epigenetic factors i.e. the genes that are responsible in controlling the enzymes that play an important role in carrying out the processes of bilirubin excretion and the epigenetic modifications that regulate the transcriptional activity of those genes. The expression of the gene gets affected by either due to a mutation in the gene or due to a epigenetic change. One of the prominent enzymes responsible is UGT1A1 and lowering of its activity is a major factor contributing to this disease. Keeping this view in mind, the present study was carried out to study the expression profile of the UGT1A1 gene in neonatal jaundice patients and correlate it with epigenetic studies.
The project aims to find a definitive epigenetic cause directing the UGT1A1 dysregulation in neonatal jaundice so as to fully understand the disease. Further studies in this aspect will present avenues for drug development based on the mechanistic details of this enzyme