Journal of Pharmacogenomics & Pharmacoproteomics

Lalkota Prakash Bhanu

Publications

• Case Report
  Combined DPD and UGT1A1 Mutation in a Single Patient: A Case Report
  Author(s): Lalkota Prakash Bhanu, Srinivasa BJ, Mohammad Nasiruddin and Naik RadheshyamLalkota Prakash Bhanu, Srinivasa BJ, Mohammad Nasiruddin and Naik Radheshyam
  
  Pharmacogenetic studies on 5-FU have mostly focused on enzyme Dihydropyrimidine Dehydrogenase (DPD), which is a rate-limiting enzyme in uracil and thymine catabolic pathway. Its activity has been found to be highly variable in different populations and several DPYD polymorphisms have been reported to be responsible for the decrease in activity of enzyme function and a high risk of 5-FU toxicity. Studies on 5-FU have mostly focused on t UGT1A1 genetic variations have been extensively investigated in relation to hyperbilirubinemia syndromes, as the UGT1A1 enzyme catalyses bilirubin glucuronidation. The importance of glucuronidation pathway in irinotecan treatment, UGT1A1 was chosen as the candidate gene to be investigated as a predictor of severe toxicity. Existence of combined mutation of DPD and UGT1A1 is adversely increases the treatment toxicity. A 57 year old male patient was diagn.. View More»
  DOI: 10.4172/2153-0645.1000165

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