Telomere biology disorders (TBD): pathology and classification
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Telomere biology disorders (TBD): pathology and classification. Telomeres are long nucleotide repeats at the ends of chromosomes.
Telomeres
- Telomeres are long nucleotide repeats at the ends of chromosomes
- They consist of tandem repeats of duplex TTAGGG sequences
- They maintain chromosome stability
- They shorten with every cell division
- They are markers of cellular aging
- Telomere biology disorders (TBD) are caused by germline mutations in telomere maintenance genes
Major syndromes
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Other syndromes
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Synonym
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References
- Niewisch MR, Savage SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2019; 12:1037-1052.
- Savage SA. Human telomeres and telomere biology disorders. Prog Mol Biol Transl Sci 2014; 125:41-66.
- Kocak H, Ballew BJ, Bisht K, et al. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes Dev 2014; 28:2090-2102.
- Martínez P, Blasco MA. Telomere-driven diseases and telomere-targeting therapies. J Cell Biol 2017; 216:875-887.
- Savage SA. Beginning at the ends: telomeres and human disease. F1000Res 2018; pii: F1000 Faculty Rev-524.
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