Researchers Identify Gene Tied To Extremely Rare Disorder That Causes Loss Of Fat

UT Southwestern Medical Center researchers have identified a gene responsible for a rare disease that results in severe joint stiffness, muscle loss, anemia and panniculitis-induced lipodystrophy, or JMP syndrome. The researchers identified a blip in the gene proteasome subunit, beta-type, 8 (PSMB8) in three patients from two distinct families who were suffering from progressive loss of fat and muscles as well as joint contractures that particularly affected the hands and feet. The fat loss was due to recurrent inflammatory lesions under the skin called panniculitis.

Smoking Behind More Than A Third Of Severe Rheumatoid Arthritis Cases

Smoking accounts for more than a third of cases of the most severe and common form of rheumatoid arthritis, indicates research published online in the Annals of the Rheumatic Diseases. And it accounts for more than half of cases in people who are genetically susceptible to development of the disease, finds the study. The researchers base their findings on more than 1, 200 people with rheumatoid arthritis and 871 people matched for age and sex, but free of the disease. The patients came from 19 health clinics in south and central Sweden, while their healthy peers were randomly selected from the population register.

Seek Early Diagnosis And Treatment For Arthritis, Rheumatologists Urge

In people who develop symptoms of inflammatory arthritis, early diagnosis and treatment can have a significant impact on the course of disease-in some cases even preventing deformity and loss of function from rheumatoid arthritis (RA), according to an article in the December issue of JCR: Journal of Clinical Rheumatology. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

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