University of Cincinnati (UC) scientists have made some findings that lend hope to those afflicted with a rare and incurable blood disease called Diamond Blackfan Anemia (DBA).
The research, undertaken by George Thomas, PhD, Stefano Fumagalli, PhD and others, will be published in the April print issue of Nature Cell Biology and was presented at the 10th annual International Diamond Blackfan Anemia Consensus Conference in New York, which concluded March 16.
DBA is a rare blood disorder that hinders the production of red blood cells, which are essential for delivering oxygen to the body's tissues. Oftentimes this incurable disease develops into leukemia.
According to the Centers for Disease Control and Prevention, approximately 25-35 new cases are diagnosed each year, the majority being found before age one.
The UC team of scientists has discovered the specific step in the biological process which may be at fault in causing cell death by releasing a protein called p53, which normally brings about cell suicide after cells have been badly damaged. In a healthy body this process prevents the overgrowth of unhealthy cells.
Putting a new twist on previous theories, the UC team hypothesizes that the p53 activation is brought on by an increase in a ribosomal protein called L11, which is released from the nucleolus.
Therein lays the potential for medical intervention.
"If we can target the L11 interaction, we might be able to spare other stress pathways that mediate potential benefits of p53 induction," says Thomas, John and Gladys Strauss endowed professor of cancer biology at UC and scientific director of UC's Genome Research Institute.
This may lead to promising new treatments for DBA.
"By understanding the chain of biological events leading to this abnormal cell death and targeting the specific molecular checkpoint that controls cell death, we may be able to develop new drugs that would interrupt or stop the process and allow the body to recover, rebuilding healthy bone marrow," Thomas says.
This promising research was funded in part by the National Cancer Institute's Mouse Models in Human Cancer Consortium. Alongside Thomas and Fumagalli, other project collaborators hail from UC, the Friedrich Miescher Institute for Biomedical Research and Novartis Institutes for Biomedical Research in Switzerland, the Institute Via Olgettina in Italy and Beth Israel Deaconess Medical Center in Boston.
Writer: Jonathan DeHart
Source: University of Cincinnati
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