Multiple endocrine neoplasia type 1 causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2] Aravind Reddy Kothagadi M.B.B.S[3] Ajay Gade MD[4]]
Overview
Multiple endocrine neoplasia type 1 is caused by a mutation in the MEN-1 gene.This gene encodes for menin protein. Menin prevents the cells from growing and dividing aggressively. Menin is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. Inactivating mutations of both the copies of the MEN-1 gene leads to lack of availability of menin to control cell growth and division.
Causes
The causes of MEN-1 are as follows:[1][2][3][4]
- Genetic mutation is suspected to be the main cause of type 1 multiple endocrine neoplasia. It is caused by mutation in the MEN-1 gene.
- This gene encodes for menin protein. Menin prevents the cells from growing and dividing aggressively.
- Menin is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes.
- Inactivating mutations of both the copies of the MEN1 gene leads to lack of availability of menin to control cell growth and division.
- This leads to the formation of tumors characteristic of the MEN-1 syndrome. Why these tumors preferentially affect endocrine tissues is unclear.
- MEN-1 syndrome is inherited in an autosomal dominant fashion. The altered gene is usually inherited from an affected parent. People with this condition are born with one mutated MEN1 gene copy in each cell.
- New mutations in MEN-1 without a family history can also occur in some patients.
- In most autosomal dominant conditions, in order to cause the disorder one altered copy of a gene in each cell is usually enough, two copies of the MEN1 gene must be altered to trigger tumor formation in multiple endocrine neoplasia type 1.
- In an individuals lifetime, in a small number of cells, a mutation in the second copy of the MEN1 gene occurs. Individuals with one MEN1 mutation acquire a second mutation in few cells leading to form tumors as a result of the unregulated division of cells.
References
- ↑ Krysiak R, Okopień B (2012). "[Multiple endocrine neoplasia type 1]". Pol Merkur Lekarski. 32 (188): 116–22. PMID 22590916.
- ↑ Agarwal SK (2017). "The future: genetics advances in MEN1 therapeutic approaches and management strategies". Endocr Relat Cancer. 24 (10): T119–T134. doi:10.1530/ERC-17-0199. PMID 28899949.
- ↑ Thakker RV (2012). "Multiple endocrine neoplasia type 1". Indian J Endocrinol Metab. 16 (Suppl 2): S272–4. doi:10.4103/2230-8210.104058. PMC 3603045. PMID 23565397.
- ↑ Hasani-Ranjbar S, Rahmanian M, Ebrahim-Habibi A, Soltani A, Soltanzade A, Mahrampour E; et al. (2014). "Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation". Fam Cancer. 13 (2): 267–72. doi:10.1007/s10689-013-9692-1. PMID 24218143.