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NIH scientists discover link among spectrum of childhood diseases
Date:10/31/2011

fied in three adult patients with a disease called joint contractures, muscle atrophy and panniculitis-associated lipodystrophy (JMP).

PSMB8 is one of more than 20 components involved in making a cellular structure called a proteasome, which recycles proteins from cells that are stressed or dying.

"When the proteasome doesn't function, there is a buildup of protein waste products in the cells much like if your trash wasn't picked up each week, it would accumulate in your driveway," said Dr. Goldbach-Mansky.

The one patient without the mutation had a blood profile that was identical to the ones who did, and showed the same accumulation of waste products in the cells seen in children with the genetic mutation. Blood tests also showed high levels of an inflammatory chemical called interferon gamma-induced protein 10 (IP-10) that is stimulated by interferons. The chemical is produced in response to some infections, and the group suspects that it also may be produced in the cellular stress response.

The discovery, which is described in Arthritis & Rheumatism, unifies several different diseases into one spectrum of proteasome-associated autoinflammatory syndromes, said Dr. Goldbach-Mansky. She hopes that these findings will enable doctors to identify more children who fit into this spectrum of difficult-to-treat disorders so that they can develop a better understanding of the disorders and their treatment.

Despite the best treatments currently available which, in most cases, consist of high doses of steroids children with these disorders continue to lose fat and suffer metabolic changes that lead to a range of problems, including loss of muscle mass, dilated heart muscles and cardiac arrhythmias. Treatments for other inflammatory diseases have little, if any, effect on the prognoses of these diseases. The group's findings, however, suggest new therapeutic targets.


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Contact: Trish Reynolds
reynoldsp2@mail.nih.gov
301-496-8190
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Source:Eurekalert

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