Multiple endocrine neoplasias are rare disorders characterized by excessive production and multiplication of cells resulting in the formation of tumors in endocrine glands. The tumors formed in this syndrome can be cancerous or non-cancerous in nature. These tumors can be formed in more than one endocrine gland. They are formed due to mutations in the genes that are passed from the parents to their children. This disorder runs in families. Its symptoms develop according to its types. Genetic screening can find out such cases in the disorder in families. It occurs in infants or old aged people. There is no cure known for this disorder.
What Is The Most Common Cause Of Multiple Endocrine Neoplasia?
Multiple endocrine neoplasia syndromes are induced by mutations in the genes transferred from parents to their children. The mutation in certain genes is the most common cause of this disorder. These defective genes are MEN 1, RET, and CDKN1B genes. These genes carry information for functioning growth, and multiplication of endocrine glands. (1)
MEN 1 Gene
Mutations of MEN 1 gene trigger multiple endocrine neoplasias type 1. This gene carries information for the production of a protein named Menin. This protein suppresses the process of formation of tumors in the endocrine glands. Its exact function is not clear. But, it is supposed that it inhibits the excess production or growth of cells in an uncontrolled manner. It is also assumed that it plays an important role in coping and repairing DNA and affects the activity of other genes. This defective gene impairs the production of menin leading to overproduction of cells and the formation of tumors in the endocrine glands. (2)
Multiple endocrine neoplasias Type 2 A is caused by mutations in the gene RET. RET gene carries information for the production of a protein that transfers signals within the cells. This RET protein also initiates chemical reactions that regulate the cells’ reactions according to the surrounding environment. These reactions involve division or maturation. The mutated RET gene can increase the signaling activity of the protein that may result in overgrowth and division of the cell in an uncontrolled manner in the absence of any signal from the environment. This uncontrolled cell division can result in the formation of tumors in the endocrine glands. (3)
MEN 2B develops due to mutations in the CDKN1B gene. This gene codes information for the production of a protein named p27. This protein plays a vital role in the suppression of formation of tumors in the endocrine glands as this protein controls the growth and division of cells. Mutations in the CDKN1B gene can reduce the number of p27 which is functional. The cells grow and multiply abnormally. It results in the development of tumors in the endocrine glands.
Multiple endocrine neoplasia syndrome or MEN refers to a group of inherited disorders that leads to the development of tumors in more than one tumor in endocrine glands at a time. It can involve major endocrine glands like pituitary, thyroid, parathyroid, adrenal, and pancreas. The tumors developed can be benign or malignant. Benign tumors are slow-growing tumors that are located in a single part of the body and do not spread to other parts. It is also not a life-threatening condition. Malignant tumors are rapidly growing tumors that spread to other parts. If malignant tumors are not managed properly, it can be fatal. It passes on in families from one generation to others. 50 % of children born in families with a history of multiple endocrine neoplasias syndrome will develop such a disorder. (4)
Multiple endocrine neoplasia syndromes are rare disorders that cause abnormal production of hormones in the endocrine glands. It happens due to mutations in the genes that are meant to control the production of specific proteins in the glands as mentioned above. These proteins regulate the growth and production of the cells in these glands. Genetic mutation is the main cause of the disease.