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Muckle Wells syndrome (MWS) is a rare genetic disease that affects the skin, joints, and can cause fever. It can also damage the kidneys and hearing. Symptoms include rashes, joint pain, and inflamed eyes. The NLRP3 gene causes MWS, which codes for a protein called cryopyrin that triggers inflammation. Recurring episodes of inflammation occur throughout a patient’s life, with triggers including stress, cold, and tiredness.
Muckle Wells syndrome (MWS) is a rare disease caused by an abnormal copy of a gene. The disease affects the skin and joints of patients and also causes fever. In the long term, MWS can also damage the hearing and kidneys of those affected. It is also known as urticaria-deafness-amyloidosis (UDA) syndrome. Muckle Wells syndrome is one of a group of similar disorders called cryopyrin-associated periodic syndromes (CAPS).
Symptoms of MWS include rashes that don’t itch, joint pain, and high temperatures. Inflamed eyes are another possible symptom. About a third of people with Muckle Wells syndrome develop kidney damage over time due to the collection of a protein called amyloid in the kidney, known as amyloidosis. The disease can also affect the nerves in the ear and cause deafness. Some people may also suffer from lesions on the skin.
The gene that causes the symptoms of MWS is the NLRP3 gene. Humans usually have two copies of each gene, one set from the mother and one set from the father. Each copy of a gene codes for a particular protein, and if a gene is mutated, it can code for a different protein than normal.
NLRP3 codes for a protein called cryopyrin, and in people without the disease, the code is accurate enough for the body to make a protein that functions normally. In people with MWS, at least one copy of the gene is mutated and the cryopyrin the body makes is not normal. This mutated gene is dominant, which means that if a person has a normal copy in addition to the mutated copy, the normal copy does not prevent the disease from developing.
Cryopyrin is part of the immune system’s response to infection or tissue injury. It helps form a complex of molecules called an inflammasome. The completed inflammasome acts as a signal for the body to begin the inflammation process.
The abnormal cryopyrin produced by people with Muckle Wells syndrome is much more active than usual in the inflammasome. It triggers more inflammation than necessary and causes symptoms such as fever, rash and joint pain. These symptoms result from an overly enthusiastic inflammatory process that accidentally damages and kills cells in the body.
Someone with MWS typically suffers from recurring episodes of inflammation throughout their life. The first occurrence generally occurs in childhood. Triggers for a flare-up include stress, cold, or tiredness, but sometimes it feels like there are no triggers.
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