PTEN Gene: Genomic Structure, Biological Functions, Role in Human Disease, and Therapeutic Implications

Abstract

Background
This comprehensive review illuminates the complicated landscape of the PTEN (Phosphatase and Tensin Homolog) gene, unravelling its genomic structure, functional significance, and far-reaching implications in health and disease. From the coding sequences shaping its protein structure to its pivotal role as a negative regulator in the PI3K/AKT/mTOR pathway, PTEN's impact spans diverse realms, including cancer, neurodevelopmental disorders, and metabolic conditions. Exploring the genetic mutations and their ripple effects across various diseases, the review reveals the dysregulated signalling pathways that propel disease pathogenesis. It then navigates through PTEN's indispensable contributions to embryonic development, tissue homeostasis, and aging, emphasizing its role in cellular growth, differentiation, and the maintenance of tissue integrity. Zooming into the neurological domain, the review accentuates PTEN's involvement in neurodevelopmental disorders like autism and epilepsy. The potential therapeutic interventions come to the fore, with gene therapy, small molecule inhibitors, and combination therapies emerging as promising avenues to modulate PTEN activity. Looking ahead, the review charts the course for future PTEN research, highlighting emerging areas such as PTEN regulation, non-canonical functions, and interactions with microRNAs. Technological advancements in single-cell analysis, imaging, and genome editing promise to illuminate previously unseen facets of PTEN biology. The clinical implications and therapeutic potential of PTEN steal the spotlight, with precision medicine, targeted therapies, and novel applications beyond oncology offering glimpses into a transformative future. The review concludes by championing ongoing research efforts, calling for the unravelling of the intricate mechanisms governing PTEN, and paving the way for personalized diagnostics and groundbreaking therapies across a spectrum of diseases.

Conclusion: The PTEN gene has multiple functions and plays an important role in controlling the PI3K/AKT/mTOR signalling pathway and cellular homeostasis. It plays a role in tumour suppression as well as in metabolism, insulin signaling, development, aging and neurological and vascular disorders. Genetic and/or functional deregulations of PTEN can be linked to a wide variety of human diseases, such as cancer and metabolic disorders like type 2 diabetes mellitus. The understanding of PTEN regulation and the tissue specific role of this gene can lead to better disease diagnosis and targeted therapeutic approaches.