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Updated: Nov 4, 2025

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer

Published on: April 13, 2015

Telomere biology disorders.

Michelle L W Kam¹, Trang T T Nguyen², Joanne Y Y Ngeow^3,4

¹Department of Respiratory and Critical Care Medicine, Singapore General Hospital, Singapore, Singapore.

NPJ Genomic Medicine

|May 29, 2021

Summary

This summary is machine-generated.

Telomere biology disorders (TBD) are rare genetic diseases impacting telomere maintenance. Diagnosis is challenging due to variable symptoms and lack of clear criteria, leading to underdiagnosis.

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Telomere Length and Telomerase Activity; A Yin and Yang of Cell Senescence

Telomere Length and Telomerase Activity; A Yin and Yang of Cell Senescence

Published on: May 22, 2013

Area of Science:

Genetics
Cell Biology
Molecular Biology

Background:

Telomere biology disorders (TBD) are a group of rare diseases caused by genetic mutations affecting telomere maintenance.
Telomeres, protective DNA-protein structures at chromosome ends, regulate cell aging and stability.
Symptoms vary widely, including bone marrow failure, pulmonary fibrosis, and liver cirrhosis, often presenting as idiopathic pulmonary fibrosis.

Purpose of the Study:

To review current literature on TBD.
To highlight diagnostic challenges and knowledge gaps.
To identify areas for improved management of TBD.

Main Methods:

Literature review of current research on telomere biology disorders.
Analysis of diagnostic criteria and current treatment outcomes.
Identification of unmet needs in TBD research and clinical practice.

Main Results:

TBD are underdiagnosed due to incomplete penetrance and variable clinical presentations.
No established diagnostic criteria or gold standard for telomere length measurement exist.
Current treatments, primarily organ transplantation, have poor outcomes.

Conclusions:

There is a critical need for standardized diagnostic criteria and improved methods for telomere length assessment.
Further research is required to identify all TBD-related mutations and develop effective therapies.
Enhanced understanding and management strategies are crucial to address the burden of TBD.