Medical Research Council - London Institute of Medical Sciences

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WHIM and Bone

How the affected gene CXCR4 in inherited disease WHIM syndrome underlies associated bone defects

11 May 2023

WHIM and Bone

WHIM syndrome is a rare inherited disease caused by faults in the protein CXCR4. These faults increase CXCR4 activity and consequently, cause white blood cells to become trapped in the bone marrow. This produces a plethora of symptoms throughout the body. Researchers now hone in on bone symptoms in WHIM patients and WHIM mice. Bone density scanning revealed a quarter of WHIM patients had reduced bone density. In mice, microCT bone imaging (pictured) revealed WHIM mice with one (middle) or two copies (right) of the faulty CXCR4 gene had bone defects, unlike normal mice (left). WHIM mice had fewer cells that develop into bone cells and more bone-degrading cells. Blocking CXCR4 activity in these mice restored the loss of bone cells. This highlights the vital role of CXCR4 signalling in the production of bone cells and maintaining the balance between bone formation and degradation.

Written by Lux Fatimathas

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