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St. Jude Study Reveals a New Function for an Old Enzyme in Fatal Childhood Disease
Date:7/7/2008

o engage in lysosomal exocytosis into the bone marrow environment.

"The evidence strongly suggests that in children lacking a normal gene for NEU1, disruption of the bone marrow environment causes the exodus of hematopoietic cells from the marrow to the spleen," d'Azzo said. "That leads to development of the symptoms of sialidosis. Although we don't have a cure for this terrible disease, we are now beginning to identify alternative ways to improve the disease outcome in affected children."

These findings offer new insight into why bone marrow transplants do not work in humans who lack the neu1 gene, d'Azzo said. Bone marrow cells transplanted into patients should normally home in the bone marrow niche and stay there until they mature. But if the bone marrow environment is hostile because of the loss of NEU1, the donated stem cells migrate out of the marrow and the transplant fails.

"The exciting thing about this work is that it sheds light on two major issues: the cause of sialidosis and the reason for bone marrow transplantation failure in the absence of NEU1," d'Azzo said. "This wealth of new information gives us a better understanding of the physiological function of NEU1, which appears to be much broader than originally thought. This illustrates the important role of basic research in making discoveries that have major implications for medical problems."

Other authors of this paper include Erik Bonten, Diantha van de Viekkert, Huimin Hu, Simon Moshiach and Samuel Connell (St. Jude) and Gouri Yogalingam (formerly of St. Jude).

This work was supported by the National Institutes of Health, the Assisi Foundation of Memphis and ALSAC.

St. Jude Children's Research Hospital

St. Jude Children's Research Hospital is internationally recognized for its pioneering work in finding cures and saving children with cancer and other catastrophic diseases. Founded by late entertainer Danny Thomas and based in Memphis, Tenn., St. Jud
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SOURCE St. Jude Children's Research Hospital
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