Understanding cell function to illuminate disease
22 June 2007
Scientists at the Medical Research Council have identified a key stage in the development of bone marrow disease – and increased chances of leukaemia – for people with Shwachman-Diamond syndrome (SDS). They hope their discovery will help shed light on other inherited blood disorders such as more common bone marrow diseases, abnormal blood cell production (myelodysplasia) and leukaemia.
The crystal structure of the archaeal sbds protein
Shwachman-Diamond Syndrome is a rare disease affecting the pancreas, bone marrow and skeleton. People with the disease lack a protein known as Shwachman-Bodian-Diamond Syndrome (SBDS) protein. The protein’s function in a healthy person is unknown but scientists do know that a lack of it causes disease.
People with this disease inherit a mutation in DNA, which causes a fault in the development of ribosomes, the small structures inside the cell that are responsible for synthesising proteins so they are ready to be used by the body.
The scientists, at the Medical Research Council’s Laboratory of Molecular Biology, working in collaboration with researchers at the University of Toronto and also supported by the Leukaemia Research Fund, have found that this defect in the ribosomes leads to a protein deficiency that can eventually cause bone marrow failure and problems with the production of blood cells. Their research, published in Nature Genetics, found that the SBDS protein family has a critical role in the complete development of ribosomes and in moving these particles about the cell.
Professor Alan Warren from the MRC’s Laboratory of Molecular Biology in Cambridge hopes this research may stimulate the development of new ways to treat people with bone marrow failure and leukaemia:
“Our goal now is to fully understand the molecular mechanisms underlying the development of ribosomes and how these are disturbed in disease. Shwachman Diamond Syndrome provides an excellent model for understanding the genetic basis of bone marrow failure, myelodysplasia and leukaemia.
“The appreciation that the defective development of ribosomes may lead to human disease is opening up an exciting new area of research. By fully understanding the molecular mechanisms involved in the maturing of ribosomes, we hope to develop new ways to treat people with genetic conditions such as SDS as well as the more common haematological diseases.”
Professor Colin Blakemore, Chief Executive of the MRC said:
“This basic research, at the molecular level, is a powerful demonstration of the way in which our understanding of the genetic basis of cell function is illuminating human disease. It is a good example of why it is so important to maintain the UK’s commitment to the long-term support of high-quality fundamental research as the basis of future improvements in human health.”
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