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Dyskeratosis congenita

Dyskeratosis congenita. Abdirahman Hussein 1615. Telomeres are maintained by protein complexes telomerase and shelterin. Telomerase helps maintain normal telomere length by adding small repeated segments of DNA to the ends of chromosomes

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Dyskeratosis congenita

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  1. Dyskeratosiscongenita Abdirahman Hussein 1615

  2. Telomeres are maintained by protein complexes telomerase and shelterin

  3. Telomerase helps maintain normal telomere length by adding small repeated segments of DNA to the ends of chromosomes • The main components of telomerase are: hTR and hTERT which are produced from the genes TERC and TERT respectively

  4. The hTR component is an RNA molecule and provides the template for synthesis of DNA • The function of the hTERTcomponent is to add the new DNA segment to the chromosome ends

  5. DKC1gene is another important gene that provides instructions for making another protein called Dyskerin which binds to hTR and helps stabilizes the telomerase complex

  6. TINF2 gene provides instructions for making a protein that is part of the shelterin complex • The shelterin complex protects telomeres from the cells DNA repair process, without the protection of the shelterin, the repair mechanism would sense the chromosome ends as abnormal breaks in the DNNA sequence and either attempts to join the ends together or initiate apoptosis

  7. TERT, TERC, DKC1, or TINF2 gene mutations result in dysfunction of the telomerase or shelterincomplexes. Cells that divide rapidly are especially vulnerable to the effects of shortened telomeres. As a result, people with dyskeratosiscongenitamay experience a variety of problems affecting quickly dividing cells in the body.

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