The consequences of telomerase deficiency were studied in model organisms before telomerase mutations were discovered in the setting of human disease[18, 19]
Animal Models telomerase deficiency was studied in mouse models prior to their discovery in association with human disease, with dyskeratosis congenita being the first to be associated with TBD
The consequences of telomerase deficiency were studied in model organisms before telomerase mutations were discovered in the setting of human disease[18, 19]
Animal Models telomerase deficiency was studied in mouse models prior to their discovery in association with human disease, with dyskeratosis congenita being the first to be associated with TBD
Genetics of human telomere biology disorders
PMID 36151328
Gene TERC
Diseases dyskeratosis congenita, pulmonary fibrosis, Høyeraal–Hreidarsson syndrome, Coats plus syndrome and Revesz syndrome
This is substantiated by the observation that, similarly to some types of SGR that affect the RNA decay machinery (for example, DIS3 or MTREX; Fig. 4c) and likely increase the level of functional hTR, an inhibitor of the hTR poly(A) polymerase PAPD5 increases the level of mature hTR and improves the potential of haematopoietic stem and progenitor cells in the context of PARN or dyskerin deficiency59,237,238,239.
potential gene therapy targets to increase TERC (hTR)
Since then, 16 additional TBD-causing genes have been identified (Table 1)
Important Table of 16 known telomere biology disorder linked genes with synopses of associated diseases and case counts
Genetics of human telomere biology disorders
PMID 36151328
Gene TERC
Diseases dyskeratosis congenita, pulmonary fibrosis, Høyeraal–Hreidarsson syndrome, Coats plus syndrome and Revesz syndrome
This is substantiated by the observation that, similarly to some types of SGR that affect the RNA decay machinery (for example, DIS3 or MTREX; Fig. 4c) and likely increase the level of functional hTR, an inhibitor of the hTR poly(A) polymerase PAPD5 increases the level of mature hTR and improves the potential of haematopoietic stem and progenitor cells in the context of PARN or dyskerin deficiency59,237,238,239.
potential gene therapy targets to increase TERC (hTR)
Since then, 16 additional TBD-causing genes have been identified (Table 1)
Important Table of 16 known telomere biology disorder linked genes with synopses of associated diseases and case counts
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
PMID 18753630
Disease pulmonary fibrosis
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
PMID 18753630
Disease pulmonary fibrosis