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Protein Mutated In Shwachman-Diamond Syndrome Provides Stability

Date:
March 6, 2008
Source:
Journal of Clinical Investigation
Summary:
Shwachman-Diamond syndrome (SDS) is an inherited disorder, caused by genetic mutations in the SBDS gene and characterized by, among other things, bone marrow failure and an increased risk of acute myeloid leukemia. New insight into the mechanisms underlying these symptoms has now been generated by analyzing human bone marrow stromal cells (BMSCs) and skin fibroblasts.
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Shwachman-Diamond syndrome (SDS) is an inherited disorder, caused by genetic mutations in the SBDS gene and characterized by, among other things, bone marrow failure and an increased risk of acute myeloid leukemia.

New insight into the mechanisms underlying these symptoms has now been generated by a team of researchers from Children's Hospital Boston and the University of Washington, Seattle, who analyzed human bone marrow stromal cells (BMSCs) and skin fibroblasts.

In BMSCs from healthy individuals the SBDS protein was found to be located at the mitotic spindle, a structure that forms when a cell is dividing, where it bound to and stabilized microtubules, protein filaments that function as structural components of a cell.

Consistent with a role for SBDS in mitotic spindle stability, BMSCs from individuals with SDS exhibited increased abnormal mitosis. Further studies using drugs that modify microtubule stability supported this idea and led the authors to suggest that microtubule-stabilizing agents might provide a new approach to the treatment of individuals with SDS.

Journal reference: Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. Journal of Clinical Investigation. March 2008.


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Journal of Clinical Investigation. "Protein Mutated In Shwachman-Diamond Syndrome Provides Stability." ScienceDaily. ScienceDaily, 6 March 2008. <www.sciencedaily.com/releases/2008/03/080306202730.htm>.
Journal of Clinical Investigation. (2008, March 6). Protein Mutated In Shwachman-Diamond Syndrome Provides Stability. ScienceDaily. Retrieved July 16, 2024 from www.sciencedaily.com/releases/2008/03/080306202730.htm
Journal of Clinical Investigation. "Protein Mutated In Shwachman-Diamond Syndrome Provides Stability." ScienceDaily. www.sciencedaily.com/releases/2008/03/080306202730.htm (accessed July 16, 2024).

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