What is Muckle Wells syndrome?
Muckle Wells (MWS) syndrome is a rare disease caused by an abnormal copy of the gene. The disease affects the skin and joints of patients and also causes fever. MWS can also damage hearing and kidneys of affected people. It is also known as urticaria-notes-amyloidosis syndrome (UDA). Muckle Wells syndrome is part of a group of similar disorders called periodic syndromes associated with cryopyrin (CAPS). Another possible symptom is inflamed eyes. About a third of people with Muckle Wells syndrome have been developing kidney damage over time as a result of the collection of protein called amyloid in the kidney called amyloidosis. The disease can also affect the nerves in the ear and cause deafness. Some people may also suffer from lesions on the skin.
gene that causes MWS symptoms is the NLRP3 gene. People have two copies of each gene, usually one set of MOA one from the father. Each copy of the gene code for a particular protein, and if the gene is mutated, the protein may encode other than usual.
NLRP3 codes for protein called cryopyrin and in people without a disease is accurate enough to create a protein that works normally. In people with MWS, at least one copy of the gene is mutated and the cryopyrin that the body is doing is not normal. This mutated gene is dominant, which means that if a person has a normal copy and a mutated copy, a normal copy will not prevent the development of the disease.
Cryopyrin is part of the reaction of the immune system to the infection or damage to the tissue. It helps to create a complex of molecules called inflammation. The completed inflammasoma acts as a signal for the body to start the inflammation process.
abnormal cryopyrin that people with mudemsyndrome le wells make are much more active in infmammasom than usual. It causes more inflammation than necessary and causes symptoms such as fever, rash and joint pain. These symptoms result from an excessive inflammatory process that accidentally damages and kills its own cells of the body.
Who usually suffers from MWS recurring episodes of inflammation during his life. The first occurrence is generally in childhood. Stress triggers include stress, colds or fatigue, but sometimes there seems to be no trigger.