A researcher was asked if his work on the genetic control of human telomere replication was related to any genetic disorders. He replied that one might think that any mutations involving replication would be lethal during early development, and thus unavailable for study. But, in fact, a rare human genetic disorder affecting telomeres is known. This disorder, dyskeratosis congenita (DKC), is associated with mutations in the protein subunits of telomerase, the enzyme responsible for replicating the ends of eukaryotic chromosomes. Initial symptoms appear in tissues derived from rapidly dividing cells, including the skin, nails, and bone marrow, and first affect children between the ages of 5 and 15 years.
This disorder raises several interesting questions.
Is this disorder likely to impact the life span?
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