Telomeres are DNA–protein structures that protect chromosome ends from degradation and
fusion
cancer, was the first human disease in which telomeres were thought tohave a role. Telomerase activity was found to be upregulated in most cancers7
lung disease
premature-ageing syndromes
childhood onset:
Dyskeratosis congenita syndrome: dyskeratosis congenita 1 (DKC1) gene, encodes a conserved protein called dyskerin, it was as an essential component of the telomerase enzyme. skin hyperpigmentation, oral leukoplakia and nail dystrophy
Hoyeraal–Hreidarsson syndrome is characterized by developmental delay, immunodeficiency and cerebellar
hypoplasia.
Revesz syndrome is characterized by bilateral exudative retinopathy
Adult-onset manifestations of telomere-mediated disease:
more common due to germline TERT or TR loss-of-function mutations. Example: idiopathic pulmonary fibrosis (IPF). most common manifestation of telomere-mediated disease
fusion
cancer, was the first human disease in which telomeres were thought tohave a role. Telomerase activity was found to be upregulated in most cancers7
lung disease
premature-ageing syndromes
childhood onset:
Dyskeratosis congenita syndrome: dyskeratosis congenita 1 (DKC1) gene, encodes a conserved protein called dyskerin, it was as an essential component of the telomerase enzyme. skin hyperpigmentation, oral leukoplakia and nail dystrophy
Hoyeraal–Hreidarsson syndrome is characterized by developmental delay, immunodeficiency and cerebellar
hypoplasia.
Revesz syndrome is characterized by bilateral exudative retinopathy
Adult-onset manifestations of telomere-mediated disease:
more common due to germline TERT or TR loss-of-function mutations. Example: idiopathic pulmonary fibrosis (IPF). most common manifestation of telomere-mediated disease
