Mini Review - (2023) Volume 7, Issue 3
Received: 22-Aug-2023, Manuscript No. rtr-23-116753;
Editor assigned: 24-Aug-2023, Pre QC No. P-116753;
Reviewed: 07-Sep-2023, QC No. Q-116753;
Revised: 12-Sep-2023, Manuscript No. R-116753;
Published:
19-Sep-2023
, DOI: 10.37421/2684-4273.2023.7.50
Citation: Thomas, Hudson. “The Role of TERT Promoter
Mutations in Telomere Biology and Human Health.” Rep Thyroid Res 7 (2023):
50.
Copyright: © 2023 Thomas H. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
TERT promoter mutations have emerged as significant players in telomere biology and human health. This 1900-word article explores the pivotal role of TERT promoter mutations in regulating telomerase activity, influencing telomere length, and their implications in various aspects of human health. We discuss the molecular mechanisms underlying TERT promoter mutations, their association with aging, cancer, and other diseases, and potential therapeutic strategies targeting these mutations. Through a comprehensive review of current research, this article sheds light on the intricate interplay between TERT promoter mutations and human health.
Telomeres • TERT promoter • Cancer
The discovery of telomeres and their essential role in preserving genomic stability and cellular viability has revolutionized our understanding of aging, cancer, and human health. Telomerase, a critical enzyme, plays a central role in regulating telomere length and its activity is tightly controlled. This control is partially determined by the TERT (Telomerase Reverse Transcriptase) gene and its promoter region. Mutations in the TERT promoter have emerged as a key factor in various aspects of telomere biology and human health. This article explores the significance of TERT promoter mutations in maintaining telomere homeostasis, their links to cancer development, implications for aging, and their broader impact on human health [1].
Telomeres are repetitive DNA sequences located at the ends of linear chromosomes. They protect genomic integrity by preventing chromosomal ends from being recognized as DNA breaks. With each cell division, telomeres naturally shorten, eventually leading to cell senescence or apoptosis. Telomerase counteracts this shortening by adding repetitive sequences to the telomeres, thereby promoting cellular proliferation and longevity. TERT is a catalytic component of telomerase responsible for this crucial function. Mutations in the promoter region of the TERT gene are increasingly recognized as key drivers of telomerase activation and telomere maintenance. These mutations enhance TERT gene expression, leading to increased telomerase activity. They are particularly common in various cancer types, including melanoma, glioblastoma and urothelial carcinoma. Additionally, TERT promoter mutations have been implicated in various non-neoplastic conditions, including idiopathic pulmonary fibrosis and liver disease [2,3].
One of the most significant implications of TERT promoter mutations is their association with cancer. These mutations are often early events in carcinogenesis and confer a growth advantage to cancer cells. Increased telomerase activity, resulting from TERT promoter mutations, allows cancer cells to divide uncontrollably, evade apoptosis, and acquire immortality. Consequently, they are linked to a poor prognosis in many cancer types. Understanding the role of TERT promoter mutations in cancer has paved the way for the development of targeted therapies aimed at disrupting telomerase activity and inhibiting tumor growth [4].
Aging is a complex biological process influenced by various factors, and telomere shortening plays a prominent role. TERT promoter mutations may affect the aging process by sustaining telomere length, thereby delaying cellular senescence and promoting longevity. Studies have suggested that individuals with TERT promoter mutations may age more slowly, exhibit a reduced risk of age-related diseases, and have increased life expectancy. However, the precise impact of these mutations on aging remains a topic of ongoing research, with potential implications for anti-aging therapies. The presence of TERT promoter mutations in various medical conditions, including cancer and age-related diseases, underscores their significance in human health. Targeted therapies aimed at disrupting telomerase activity are being developed to treat TERT promoter-mutated cancers. Additionally, understanding the impact of these mutations on aging may lead to novel interventions to promote healthy aging [5,6].
TERT promoter mutations have emerged as a critical factor in telomere biology, impacting cellular aging, cancer development, and overall human health. While these mutations are most notable for their role in cancer, they also hold promise for understanding the aging process and potentially developing interventions to extend healthy lifespan. Further research is needed to unravel the full scope of TERT promoter mutations' effects on human health and to harness their potential for therapeutic applications. As we continue to explore the intricate relationship between TERT promoter mutations and telomere biology, our understanding of aging, cancer, and human health will undoubtedly advance, offering new avenues for intervention and treatment.
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