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Review|Volume 17, Issue 7|pp 1881—1907

An overview of RecQ helicases and related diseases

Tsz-Ching Yiu1,2, Jiajie Tu3, Hoi-Hung Cheung1,4
  • 1School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong S.A.R., China
  • 2Centre for Regenerative Medicine and Health, Hong Kong Institute of Science and Innovation, Chinese Academy of Sciences, Hong Kong, China
  • 3Institute of Clinical Pharmacology, Anhui Medical University, Key Laboratory of Anti-inflammatory and Immune Medicine, Ministry of Education, Anhui Collaborative Innovation Center of Anti-inflammatory and Immune Medicine, Hefei, China
  • 4Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong S.A.R., China
Received: April 7, 2025Accepted: July 16, 2025Published: July 25, 2025
https://doi.org/10.18632/aging.206291

Copyright: © 2025 Yiu et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

RecQ helicases are known as “caretakers” of the genome for their conserved helicase activities to resolve different complex DNA structures. Aberrant accumulation of unsolved DNA structures could lead to defects in DNA replication, gene transcription, and unrepaired DNA lesions. Pathogenic mutations on BLM, WRN, and RECQL4 are associated with several pathological conditions, namely Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS). These syndromes are characterized by genomic instability and cancer predisposition. Additionally, some RecQ helicase diseases are linked to developmental defects and premature aging. In this review, we provide an overview of the RecQ helicases, focusing on the molecular functions and mechanisms, as well as the consequences of their dysfunction in cellular processes. We also discuss the significance of RecQ helicases in preventing various genetic disorders (BS, WS, RTS) and the insights obtained from the different animal models developed for studying the pathophysiology of RecQ helicase deficiencies.