Research Progress on the Pathophysiological Functions of Human Endogenous Retrovirus H

WANG Shengxin^1,2, YU Haibin¹, LUO Ting¹, KUANG Chunmei¹*, YUAN Kai^1,2,3,4*

(¹Hunan Key Laboratory of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha 410008, China; ²Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410008, China; ³The Biobank of Xiangya Hospital, Xiangya Hospital, Central South University, Changsha 410008, China; ⁴Furong Laboratory, Changsha 410008, China)

Abstract:

HERVs (human endogenous retroviruses) are viral sequences derived from exogenous retroviruses that have integrated into the human genome. This review focuses on HERVH (human endogenous retrovirus H), a major member of the HERVs family, and systematically summarizes its physiological roles, particularly in stem cell maintenance, as well as its pathological contributions to neurological disorders, autoimmune diseases, and tumors. In terms of physiological functions, HERVH cooperates with core stem cell factors to maintain the pluripotency of embryonic stem cells and the stability of three-dimensional genome architecture, thereby providing critical support for embryonic development. Pathologically, HERVH is aberrantly expressed in patients with multiple sclerosis, type 1 diabetes, and various tumors. It participates in immune dysregulation as well as tumor proliferation and metastasis, highlighting its potential as a diagnostic biomarker and therapeutic target for these diseases. This review provides a detailed overview of the biological characteristics, functional mechanisms, and disease associations of HERVH, offering important theoretical foundations for the translation of HERVH research from basic laboratory studies into clinical applications.

CSTR: 32200.14.cjcb.2026.09.0008