Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.

ABSTRACT:

Purpose of review

Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by erythroid failure, congenital anomalies and predisposition to cancer. Recently, the notion of DBA as a disorder of ribosome biogenesis has been clarified. Correlations between molecular underpinnings and disease pathophysiology, while elusive, are beginning to emerge. Advances in these areas will be explored in this review.

Recent findings

All known genes mutated in DBA encode ribosomal proteins associated with either the small (RPS) or large (RPL) subunit and in these cases ribosomal protein haploinsufficiency gives rise to the disease. The number of genes affected, their potential interactions with the environment and modifier genes, and the myriad of potential sig

SUBMITTER: Lipton JM 

PROVIDER: S-EPMC2886588 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature