Topoisomerases genetics and its associated diseases

Gurpreet Kaur, Gaurav Joshi, Praveen Sharma, Raj Kumar, Sandeep Singh

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

DNA topoisomerases are responsible for maintaining all the topological attributes of DNA by allowing the DNA strands to pass through each other during replication, transcription, and several other cellular transactions. Two distinct subfamilies of DNA topoisomerases enzymes solve various problems of disentangling DNA strands. But, the SNPs in these topoisomerase are associated with various disorders such as human laryngeal carcinoma, endometrial cancer, breast cancer, systemic scleroderma and neutropenia. This chapter discusses various disorders associated with SNPs in topoisomerases such as retinitis pigmentosa, systemic scleroderma, bloom’s syndrome and various risks associated with its pharmacogenetics. Special emphasis has been given on Topoisomerase Poisons as drugs and consequences of SNPs associated with topoisomerases based cancer therapy. The thorough SNP analysis is promising approach to identify possible genetic abnormalities of human chromosomal loci associated with disease prognosis, and specially the therapeutic response of various drugs. Knowledge of these specific SNPs pose a key to understand complex genetic mechanisms of various diseases, that may find a promising approach to cure diseases as per human’s genome specificity in the future.

Original languageEnglish (US)
Title of host publicationTopoisomerase Inhibitors
Subtitle of host publicationClassification, Mechanisms of Action and Adverse Effects
PublisherNova Science Publishers, Inc.
Pages201-228
Number of pages28
ISBN (Electronic)9781536119152
ISBN (Print)9781536118414
StatePublished - Jan 1 2017
Externally publishedYes

Keywords

  • Bloom’s syndrome
  • Retinitis pigmentosa
  • SNPs
  • Systemic scleroderma
  • Topoisomerase
  • Tumorigenesis

ASJC Scopus subject areas

  • General Medicine
  • Pharmacology, Toxicology and Pharmaceutics(all)

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