What is MEN1 gene?
What is MEN1 gene?
The MEN1 gene provides instructions for making a protein called menin. This protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. Although the exact function of menin is unclear, it is likely involved in several important cell functions.
What kind of mutation is MEN1?
Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way .
How do you know if you have MEN1?
MEN1 is diagnosed by genetic testing – the MEN1 gene can be screened for mutations. This test is offered to people who have the clinical manifestations of MEN1 (diagnostic testing), or to the relatives of people known to have MEN1 (predictive testing).
Does everyone have MEN1 gene?
Every person in the family who has MEN1 syndrome shares the same mutation. By studying different families with MEN1, scientists have identified hundreds of different mutations of the MEN1 gene that can cause the disorder.
How do you treat MEN1?
Surgical removal of the tumor is the treatment of choice. Unresectable tumors can be treated with diazoxide or octreotide. Chemotherapeutic agents or hepatic artery embolization has been used to treat metastatic disease. Insulinomas are most often single, large tumors that can be enucleated.
Where is MEN1 gene located?
Genomics. The gene is located on long arm of chromosome 11 (11q13) between base pairs 64,570,985 and 64,578,765. It has 10 exons and encodes a 610-amino acid protein.
How common is MEN1 syndrome?
How common is MEN1? It is estimated that about 1 in 30,000 people has MEN1. About 10% of people with MEN1 do not have a family history of the condition; they have a de novo (new) mutation in the MEN1 gene.
Is MEN1 hereditary?
MEN 1 can’t be cured. But regular testing can detect problems, and doctors can provide treatment as needed. MEN 1 is an inherited disorder. This means people who have the gene mutation can pass it on to their children.
How does MEN1 affect the body?
MEN1 causes tumors to develop in endocrine glands and other parts of the body. Although most of these tumors are noncancerous, they can cause the affected glands to increase in size and become overactive, producing too much hormone.
Can MEN1 skip a generation?
MEN 1 is a rare condition. It occurs in about 1 person in every 30,000 people. MEN 1 is passed down in families from one generation to the next.
Is MEN 1 a rare disease?
MEN type 1 is a rare genetic disorder caused by mutations of the MEN1 gene.
What is men 1 syndrome?
Multiple endocrine neoplasia, type 1 (MEN 1) is a hereditary syndrome characterized by hyperplasia or sometimes adenomas of the parathyroid glands, pancreatic islet cell tumors (also known as pancreatic neuroendocrine tumors), and/or pituitary gland tumors.
What are the three major types of mutation?
The three major types of mutations generally are point mutation, insertion, and deletion. Point Mutation – This is when one base is substituted or changed into another base.
What are some examples of human mutations?
Some examples of chromosomal mutations are a change of pigment in flowers and change of fur patterns in mammals compared to general population, and sickle cell anemia and cystic fibrosis in humans.
