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Telomere Dysfunction in Human Genetic Disease

  1. Garrett Morgan1,
  2. Hinh Ly2,3

Published Online: 17 OCT 2011

DOI: 10.1002/9780470015902.a0023585



How to Cite

Morgan, G. and Ly, H. 2011. Telomere Dysfunction in Human Genetic Disease. eLS. .

Author Information

  1. 1

    University of Utah, Salt Lake City, Utah, USA

  2. 2

    Emory University School of Medicine, Atlanta, Georgia, USA

  3. 3

    University of Minnesota, Twin Cities, Minnesota, USA

Publication History

  1. Published Online: 17 OCT 2011


Telomeres are specialised deoxyribonucleic acid (DNA) structures that cap the ends of chromosomes to protect genomic DNA. Telomerase is the enzyme that regulates telomere length to maintain the protective functions of telomeres. A major risk factor for some human diseases is telomere and telomerase dysfunction. Bone marrow deficiency syndromes as well as diabetes, hypertension and atherosclerosis have all been linked to alterations to telomeres or mutations in telomerase genes. The precise biological mechanisms involved in most of the diseases, however, are poorly understood. Research aimed at describing the biological processes that underlie these pathologies may elucidate the precise roles that telomeres and telomerase play in the progression of these diseases. Markers of telomere dynamics, such as telomere length and screening for telomerase mutations, may have some prognostic value related to these disorders.

Key Concepts:

  • Telomeres are repeats of the nucleic acid sequence TTAGGG.

  • T-loop structure is composed of telomeric DNA and shelterin proteins.

  • Telomeres help maintain genomic stability in the cell.

  • Progressive telomeric repeat loss occurs due to the end-replication problem and genotoxic stress.

  • Telomerase in an enzyme that adds TTAGGG repeats to 3′ ends of telomeres.

  • Bone-marrow failure syndromes, such as dyskeratosis congenita, aplastic anaemia and idiopathic pulmonary fibrosis have been linked to telomere and telomerase dysfunctions.

  • Chronic diseases such as cardiovascular disease and diabetes have also been linked to telomere alterations.

  • In vitro and in vivo research may demonstrate the precise role telomeres play in these disease processes.

  • In vivo studies may lead to development of diagnostic markers and therapies for these diseases.


  • telomeres;
  • telomerase;
  • bone-marrow failure syndromes;
  • dyskeratosis congenita;
  • aplastic anaemia;
  • idiopathic pulmonary fibrosis