Dyskeratosis congenita (DKC) is a rare human genetic disorderaffecting telomere replication. Mutations in the genesencoding the protein or RNA subunits of telomerase resultin very short telomeres. DKC symptoms include bone marrow failure(reduced production of blood cells) and anemia. If symptoms aresevere, a bone marrow transplant may be the only form of effectivetreatment. In one case, clinicians recommended that a 27-yearoldwoman with a dominant form of DKC undergo a bone marrowtransplant to treat the disorder. Her four siblings were tested, andher 13-year-old brother was identified as the best immunologicallymatched donor. However, before being tested, he was emphaticthat he did not want to know if he had DKC. During testing, it wasdiscovered that he had unusually short telomeres and would mostlikely develop symptoms of DKC. Why might mutations in genes encoding telomerase subunitslead to bone marrow failure?
Dyskeratosis congenita (DKC) is a rare human genetic disorder
affecting telomere replication. Mutations in the genes
encoding the protein or RNA subunits of telomerase result
in very short telomeres. DKC symptoms include bone marrow failure
(reduced production of blood cells) and anemia. If symptoms are
severe, a bone marrow transplant may be the only form of effective
treatment. In one case, clinicians recommended that a 27-yearold
woman with a dominant form of DKC undergo a bone marrow
transplant to treat the disorder. Her four siblings were tested, and
her 13-year-old brother was identified as the best immunologically
matched donor. However, before being tested, he was emphatic
that he did not want to know if he had DKC. During testing, it was
discovered that he had unusually short telomeres and would most
likely develop symptoms of DKC.
Why might mutations in genes encoding telomerase subunits
lead to bone marrow failure?
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