Human endogenous retrovirus-K (HML-2): a comprehensive review

Area of Science:

• Genomics
• Virology
• Molecular Biology

Background:

• The human genome harbors numerous retroviral elements, including primate-specific ones.
• Many endogenous retroviruses were historically disregarded as "junk DNA" due to defects or epigenetic silencing.
• Human endogenous retrovirus-K (HERV-K), a supergroup of viruses, is the most recently acquired and has active subtypes like HML-2.

Purpose of the Study:

• To review the discovery, classification, and structure of HERV-K.
• To explore the regulation, replication potential, and physiological roles of HERV-K.
• To discuss the involvement of HERV-K, particularly HML-2, in human diseases and potential therapeutic interventions.

Main Methods:

• Literature review of HERV-K research.
• Analysis of genomic and transcriptomic data related to HERV-K.
• Synthesis of findings on HERV-K's role in embryogenesis, cancer, and neurodegeneration.

Main Results:

• HERV-K elements, especially HML-2, are transcribed and translated, particularly during early embryogenesis.
• Aberrant HML-2 expression is linked to adult cancers and neurodegenerative diseases.
• HERV-K's functions extend beyond mere genomic remnants, implicating them in physiological and pathological processes.

Conclusions:

• HERV-K represents a significant component of the human genome with functional implications.
• Understanding HERV-K's role in disease pathogenesis opens avenues for novel therapeutic strategies.
• Targeting HERV-K offers a potential new approach for treating associated diseases.