Telomere-associated aging disorders

Patricia L. Opresko, Jerry W. Shay

Research output: Contribution to journalArticle

54 Citations (Scopus)

Abstract

Telomeres are dynamic nucleoprotein-DNA structures that cap and protect linear chromosome ends. Several monogenic inherited diseases that display features of human premature aging correlate with shortened telomeres, and are referred to collectively as telomeropathies. These disorders have overlapping symptoms and a common underlying mechanism of telomere dysfunction, but also exhibit variable symptoms and age of onset, suggesting they fall along a spectrum of disorders. Primary telomeropathies are caused by defects in the telomere maintenance machinery, whereas secondary telomeropathies have some overlapping symptoms with primary telomeropathies, but are generally caused by mutations in DNA repair proteins that contribute to telomere preservation. Here we review both the primary and secondary telomeropathies, discuss potential mechanisms for tissue specificity and age of onset, and highlight outstanding questions in the field and future directions toward elucidating disease etiology and developing therapeutic strategies.

Original languageEnglish (US)
JournalAgeing Research Reviews
DOIs
StateAccepted/In press - Mar 10 2016

Fingerprint

Telomere
Aging of materials
Nucleoproteins
DNA
Chromosomes
Age of Onset
Machinery
Repair
Tissue
Premature Aging
Telomere Shortening
Defects
Organ Specificity
DNA Repair
Proteins
Maintenance
Mutation
Direction compound
Therapeutics

Keywords

  • Premature aging
  • RecQ helicases
  • Telomerase
  • Telomere

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Aging
  • Molecular Biology
  • Neurology

Cite this

Telomere-associated aging disorders. / Opresko, Patricia L.; Shay, Jerry W.

In: Ageing Research Reviews, 10.03.2016.

Research output: Contribution to journalArticle

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