A means to an end: Telomere maintenance and bone marrow failure

A new paper from Drs. Judy Wong and Kathleen Collins (UC Berkeley) in the October 15th issue of G&D reveals a molecular mechanism underlying bone marrow failure in the X-linked human disease, dyskeratosis congenita (DC). DC is a rare, progressive bone marrow failure syndrome that is fatal early on in life. Working with cells derived from DC patients, Drs. Wong and Collins demonstrate that X-linked DC cells are unable to renew themselves because they cannot maintain sufficiently long telomeres to support proliferation. The researchers go on to show that these defects in telomere maintenance are caused by a reduction in telomerase RNA, rather than a deficiency in ribosome biogenesis, as some other groups have hypothesized. Dr. Collins is hopeful that "our studies to understand disease mechanism will aid ongoing clinical efforts to develop disease therapies."

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Last reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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