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Exclusion of the nuclear factor-kappa B3 (REL A) gene as candidate for the multiple endocrine neoplasia type 1 (MEN

R M Landsvater1, M J de Wit, L F Peterson

  • 1Department of Internal Medicine, University Hospital Utrecht, The Netherlands.

Biochemical and Molecular Medicine
|February 1, 1997
PubMed

Insights

The NF-kappa B3 gene, located in the MEN 1 region, was investigated for its role in Multiple Endocrine Neoplasia type 1 (MEN 1). Genetic analysis revealed no mutations, making NF-kappa B3 an unlikely cause of MEN 1.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Multiple Endocrine Neoplasia type 1 (MEN 1) is an autosomal dominant disorder affecting endocrine organs.
  • The MEN 1 gene is located on chromosome 11q13.
  • Nuclear factor-kappa B (NF-kappa B), a transcription factor, is involved in cellular gene regulation.

Purpose of the Study:

  • To investigate the potential role of the NF-kappa B3 gene (REL A) in MEN 1 tumorigenesis.
  • To determine if mutations in the NF-kappa B3 gene are responsible for MEN 1 development.

Main Methods:

  • Southern blot analysis of constitutional DNA from 14 MEN 1 families and 4 tumor specimens.
  • Direct sequencing of NF-kappa B3 cDNAs and exon/intron boundaries in affected individuals.

Main Results:

  • No structural abnormalities of the NF-kappa B3 gene were detected by Southern blot.
  • No MEN 1-specific point mutations or small structural aberrations were found in the NF-kappa B3 gene via sequencing.

Conclusions:

  • The NF-kappa B3 gene is unlikely to be the causative gene for MEN 1.
  • Further research is needed to identify the specific gene responsible for MEN 1.

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