Syndromes of telomere shortening

M Armanios - Annual review of genomics and human genetics, 2009 - annualreviews.org
Telomeres and telomerase were initially discovered in pursuit of questions about how the
ends of chromosomes are maintained. The implications of these discoveries to age-related
disease have emerged in recent years with the recognition of a group of telomere-mediated
syndromes. Telomere-mediated disease was initially identified in the context of dyskeratosis
congenita, a rare syndrome of premature aging. More recently, mutations in telomerase
components were identified in adults with idiopathic pulmonary fibrosis. These findings have …