A Journal of Postdoctoral Research.
     Login   |   Register   
    ISSN : 2328-9791
left right
Are Shwachman-diamond syndrome patients radiosensitive?
Nimrat Chatterjee, PhD
Massachusetts Institute of Technology
Department of Biology, MIT, Cambridge 02139, USA

Mutations in the Schwachman-Bodian diamond syndrome (SBDS) gene—involved in ribosome biogenesis—cause Shwachman-diamond syndrome (SDS), a known bone marrow failure disorder. A dysfunctional ribosome biogenesis is postulated as a cause of phenotypes seen in SDS patients. Recently, lymphocytes from SDS patients with hypomorphic SBDS expression were shown to harbor significantly increased DNA damage and H2AX foci in response to X-rays or gamma rays. Additionally, SBDS knockdown in cells increases ROS (reactive oxygen species) levels and enhances proliferation defects in a p53 dependent manner. These new reports suggest that SBDS may have a novel and a yet unexplored role in DNA repair and damage response pathways. In this short opinion article, I will discuss these recent observations and delineate hypothesis to explain the potential new roles of SBDS. 


home phone mail info@postdocjournal.com
twitter facebook social icon Social link You Tube sky
Click Here