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Curr Opin Hematol. 2011 Jan;18(1):30-5. doi: 10.1097/MOH.0b013e32834114a5.

Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.

Author information

1
aThe University of California, San Francisco School of Medicine and UCSF Benioff Children's Hospital, San Francisco, CA, USA bFred Hutchinson Cancer Research Center, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

Abstract

PURPOSE OF REVIEW:

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are found in the majority of patients, but the molecular function of the SBDS protein product remains unclear. In this article, we review recent progress in the clinical and molecular characterization of SDS.

RECENT FINDINGS:

Emerging data support a multifunctional role for the SBDS protein. Current studies indicate that SBDS functions in 60S large ribosomal subunit maturation and in mitotic spindle stabilization. Recent data suggest that it may also affect actin polymerization, vacuolar pH regulation, and DNA metabolism. SBDS loss results in both hematopoietic cell-intrinsic defects as well as marrow stromal abnormalities.

SUMMARY:

SDS is a multisystemic disease arising from defects in a protein that participates in several essential cellular processes. Elucidating the molecular function of SBDS will provide important insights into how defects in ribosome biogenesis and mitotic spindle stabilization result in hematopoietic failure, cancer predisposition, and abnormalities.

PMID:
21124213
PMCID:
PMC3485416
DOI:
10.1097/MOH.0b013e32834114a5
[Indexed for MEDLINE]
Free PMC Article

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