A new study from the Garvan Institute of Medical Research shows how rises in core body temperature may trigger the inflammatory flares in people with a rare genetic autoinflammatory disease.
The recessive disorder, called mevalonate kinase deficiency (MKD), is caused by mutations in the gene for mevalonate kinase, an essential enzyme present in all cells in the body. Lack of this enzyme leads to a build-up of abnormal proteins, which causes cells of the immune system to malfunction and trigger inflammation.
The condition usually appears in early childhood, and patients experience regular episodes of high fever and skin rashes, ulcers, swollen lymph nodes and abdominal pain. Very severe disease also causes neurological and developmental problems and can be fatal.
“Our research provides exciting new insights into the underlying physiology of MKD and what may be triggering the inflammatory flares, opening up potential new ways of treating this devastating disorder,” says Professor Mike Rogers, Head of the Bone Therapeutics lab at Garvan.
The new study is published in the Journal of Clinical Investigation.
“There has been very little progress in understanding MKD, and in particular, what causes disease flares in MKD patients. One of the main reasons for this lack of knowledge is the absence of appropriate animal models to study the mechanisms of disease,” says Garvan’s Dr Marcia Munoz, lead author of the study.
Source: Read Full Article