NDLI: Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

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Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

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Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita

Content Provider	Springer Nature Link
Author	Wong, Judy M. Y. Kyasa, Mouhammed J. Hutchins, Laura Collins, Kathleen
Copyright Year	2004
Abstract	Compromised renewal and eventual failure of the hematopoietic system in dyskeratosis congenita (DC) have been proposed to arise from a deficiency in telomerase function. Previously, cultured cell lines from patients with X-linked DC were shown to accumulate less telomerase RNA than cell lines from unaffected family members. Here, we report that telomerase RNA deficiency is also present in the circulating lymphocytes of DC patients. We have compared the accumulation levels of telomerase RNA and a panel of other small RNAs in peripheral blood mononuclear cells from an X-linked DC patient and an unaffected maternal carrier and similarly analyzed cultured lymphoblasts from an X-linked DC patient and maternal carrier in a second family. The DC-patient lymphoid cells show a specific defect in telomerase RNA accumulation with or without cell culture. Our findings support the clinical significance of telomerase deficiency and encourage the use of telomerase activation as a disease therapy.
Starting Page	448
Ending Page	455
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	115
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2004-09-03
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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