A multidisciplinary team of researchers at the Hadassah Medical Center have discovered the reason behind recurrent life-threatening infections in infants that has led to bone marrow failure. Through six months of intensive research, Dr. Polina Stepensky, a pediatric hemato-oncology and bone marrow transplant specialist; Prof. Orly Elpeleg, head of the Department of Genetics and Metabolic Diseases; and Prof. Dror Mevorach, head of Internal Medicine B and Director of the Rheumatology Research Center, identified a gene mutation in the Vps45 gene which causes accelerated cell death in select white blood cells and bone marrow.
Additionally, they noted that the intracellular transport system in the blood cells was collapsing due to the absence of intracellular storage vesicles. The authors of the study note that "this is the first report of a Vps45-related disease in humans," which manifests itself with abnormally low levels of the white blood cells produced in the bone marrow, platelet abnormality, disorder of the bone marrow, and progressive bone marrow failure. They also bring out that "elucidation of the underlying mechanism is important because it extends our understanding of the more common adult forms of these disorders."
The researchers analyzed data from five Palestinian children who suffered from recurrent, serious infections, followed by bone marrow failure. Although they came from two unrelated families, the children were products of consanguineous marriages (sharing a common ancestry). The two older siblings, who also came to Hadassah for treatment, died prior to the study. Two of the surviving children have, however, recovered from this debilitating condition thanks to successful bone marrow transplants performed at Hadassah.
The research findings were published in the April 18, 2013 on-line edition of the prestigious medical journal, Blood , and have drawn world-wide attention.