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Menin mutations in patients with multiple endocrine neoplasia type 1
B Mayr1, S Apenberg, T Rothämel
1Abteilung Klinische Endokrinologie, Medizinische Hochschule Hannover, Germany.
European Journal of Endocrinology
|January 23, 1998
Summary
Multiple endocrine neoplasia type 1 (MEN-1) is a genetic syndrome caused by mutations in the menin gene. This study confirms that MEN-1 patients carry mutations in the menin gene, furthering understanding of this familial cancer syndrome.
Area of Science:
- Genetics
- Oncology
- Endocrinology
Background:
- Multiple endocrine neoplasia type 1 (MEN-1) is an inherited syndrome characterized by tumors in parathyroid, pituitary, and enteropancreatic glands.
- The genetic basis of MEN-1 has been linked to chromosome 11q13.
- A recently identified gene, menin, located in this region, is a strong candidate for causing MEN-1.
Purpose of the Study:
- To confirm the role of the menin gene in MEN-1.
- To identify mutations in the menin gene in patients with MEN-1 syndrome.
Main Methods:
- Genomic DNA was extracted from eight patients from four pedigrees with MEN-1.
- PCR amplification and direct sequencing were used to analyze exons 2 through 10 of the menin gene.
Main Results:
- Four distinct heterozygous mutations in the menin gene were identified in the studied patients.
- Three of these mutations (one nonsense, one deletion, two insertions) are novel and located in exon 2.
- All identified mutations were found in patients with MEN-1 syndrome.
Conclusions:
- The findings confirm that mutations in the menin gene are responsible for Multiple Endocrine Neoplasia type 1.
- This strengthens the role of menin as a tumor suppressor gene in MEN-1 pathogenesis.
- Further research into the function of the menin protein is warranted.