The DKC1 gene encodes for a protein called dyskerin. Dyskerin plays two major ro

Question

The DKC1 gene encodes for a protein called dyskerin. Dyskerin plays two major roles in cells tabilizing the RNA component of telomerase and assisting i necessary for protein biosynthesis. Individuals with an X-inked mutation of the DKC1 gene have defects in dyskerin function as a stabilizer of telomerase and thereby have reduced telomerase activity. Patients subsequently develop a disorder called dyskeratosis congenita. Affected individuals suffer from abnormalities in the skin and fingernails. End-of-life typically results from a severe condition called aplastic anemia, in which new blood cells are not formed or from dramatically increased susceptibility to several cancers. the assembly of RNA which is Why does dyskeratosis congenita affect the skin, fingernails, and blood cells? Telomerase is hyperactive in most cancers giving cells "immortality". Why would loss of dyskerin function result in cancer?

Explanation / Answer

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Dyskeratosis congenita affect the bone marrow that is responsible for producing sufficient blood cell, hence, production of WBC are retarted. Dyskeratosis congenita is a genetic disorder affect the skin pigmentation and hence, it affect the skin and nails.

Cancer is caused by mutation in the DCK1 gene that is responsible for expression of dyskerin that have the function of modification of ribosomal RNA and regulate the activity of telomerase, that finally lead to the development of cancer

                                                               

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