| Multiple Endocrine Neoplasia Type 1 |
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| CATEGORIES ABOUT MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | |
| genetic disorders | |
| endocrine system | |
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Although many different types of hormone-producing tumors are associated with multiple endocrine neoplasia, tumors of the parathyroid gland, pituitary gland, and pancreas are most frequent in multiple endocrine neoplasia type 1. Tumors cause an overactivation of these hormone-producing glands, leading to serious health problems such as severe Ulcer s. Overactivity of the parathyroid gland ( Hyperparathyroidism ) is the most common sign of this disorder. Hyperparathyroidism disrupts the normal balance of Calcium in the Blood , which can lead to Kidney Stones , thinning of Bone s, weakness, and fatigue. The two major types of multiple endocrine neoplasia, type 1 and Type 2 , are often confused because they have similar names. These types are distinguished by the genes involved, the hormones that are affected, and their characteristic signs and symptoms. They are also very different in their options for cancer. Mutations in the ''MEN1'' Gene cause multiple endocrine neoplasia type 1. The function of the ''MEN1'' gene is unknown.The MEN1 gene is located in Chromosome 11 q13 and the gene product is '''Menin''' (a cofactor for Transcription ).Fauci,et al ''Harrison's Principle of Internal Medicine'' 16th Ed. p 2453 Researchers believe that it acts as a tumor suppressor, which means it normally keeps Cell s from growing and dividing too rapidly or in an uncontrolled way. If mutations inactivate both copies of the ''MEN1'' gene, cells can grow and divide in a poorly controlled way to form tumors. Most cases of multiple endocrine neoplasia type 1 are inherited in an Autosomal Dominant pattern, which means affected people may have affected siblings and relatives in successive generations (such as parents and children). An affected person usually has one parent with the condition. Some cases, however, result from new mutations in the ''MEN1'' gene. These cases occur in people with no history of the disorder in their family. People with multiple endocrine neoplasia type 1 are born with one mutated copy of the ''MEN1'' gene in each cell. Then, during their lifetime, the other copy of the gene is mutated in a small number of cells. These genetic changes result in no functional copies of the ''MEN1'' gene in selected cells, allowing the cells to divide with little control and form tumors. NOTES ''This article incorporates public domain text from The U.S. National Library of Medicine '' |
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