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Multiple endocrine neoplasia type 1 (MEN1).

Rajesh V Thakker1

  • 1Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Headington, Oxford OX3 7LJ, United Kingdom. rajesh.thakker@ndm.ox.ac.uk

Best Practice & Research. Clinical Endocrinology & Metabolism
|September 14, 2010
PubMed
Summary

Multiple Endocrine Neoplasia type 1 (MEN1) is a genetic disorder caused by mutations in the MEN1 gene, leading to various tumors. Most MEN1 mutations result in truncated Menin protein, but no clear genotype-phenotype correlations exist.

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Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal-dominant disorder affecting parathyroid, pancreas, and pituitary glands.
  • The MEN1 gene encodes the Menin protein, crucial for transcriptional regulation, genome stability, and cell proliferation.
  • Germ-line mutations in MEN1 cause MEN1 or Familial Isolated Hyperparathyroidism (FIHP), with tumors often showing loss of heterozygosity.

Purpose of the Study:

  • To review the spectrum of MEN1 gene mutations and their impact on Menin protein.
  • To investigate the relationship between MEN1 mutations and clinical features.
  • To understand the role of Menin in endocrine tumorigenesis.

Main Methods:

  • Analysis of reported MEN1 gene mutations from scientific literature.
  • Review of clinical data associated with identified MEN1 mutations.
  • Assessment of Menin protein function and its interactions.

Main Results:

  • Over 1300 MEN1 mutations identified, with >70% predicted to produce truncated Menin.
  • Four specific mutations (c.249_252delGTCT, c.1546_1547insC, c.1378C>T, c.628_631delACAG) are frequent in MEN1 families.
  • No significant genotype-phenotype correlations were observed between specific mutations and clinical presentation.

Conclusions:

  • MEN1 mutations disrupt Menin protein function, likely affecting cell cycle regulation and proliferation.
  • The wide variety of mutations and lack of genotype-phenotype correlation highlight the complexity of MEN1.
  • Further research is needed to fully elucidate Menin's role and the mechanisms underlying MEN1 pathogenesis.