Endocrine

, Volume 38, Issue 3, pp 397–401

Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism

  • Lee F. Starker
  • Alberto Delgado-Verdugo
  • Robert Udelsman
  • Peyman Björklund
  • Tobias Carling
Original Article

DOI: 10.1007/s12020-010-9399-0

Cite this article as:
Starker, L.F., Delgado-Verdugo, A., Udelsman, R. et al. Endocr (2010) 38: 397. doi:10.1007/s12020-010-9399-0

Abstract

To investigate the SDHAF2 gene and its effect on primary hyperparathyroidism. Parathyroid tumors causing primary hyperparathyroidism (pHPT) are one of the more common endocrine neoplasias. Loss of heterozygosity at chromosome 11q13 is the most common chromosomal aberration in parathyroid tumors occurring in about 40% of sporadic tumors. Only 15–19% display somatic mutations in the MEN1 gene, which suggest that this chromosomal region may harbor additional genes of importance in parathyroid tumor development. The SDHAF2 (formerly SDH5) gene is a recently identified neuroendocrine tumor suppressor gene at this locus, and inherited mutations of the SDHAF2 gene has been linked to familial paraganglioma. We demonstrate that the SDHAF2 gene is expressed in parathyroid tissue using RT-PCR. Because detection of inactivating mutations is the major criterion for validating a candidate tumor suppressor, we used automated sequencing of the coding region and intron/exon boundaries in 80 sporadic parathyroid adenomas from patients with pHPT. A known polymorphisms (A to G substitution; rs879647) was identified in 9/80 parathyroid tumors but no tumor-specific somatic mutational aberrations, such as nonsense, frameshift, or other inactivating mutations were identified. The SDHAF2 gene is expressed in parathyroid tissue. However, somatic mutations of the SDHAF2 tumor suppressor gene are unlikely to frequently contribute to parathyroid tumor development in sporadic pHPT.

Keywords

Hyperparathyroidism Parathyroid Paraganglioma Succinate dehydrogenase SDHAF2 

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Lee F. Starker
    • 1
    • 2
    • 4
  • Alberto Delgado-Verdugo
    • 1
    • 2
    • 4
  • Robert Udelsman
    • 1
    • 3
  • Peyman Björklund
    • 1
    • 2
    • 4
  • Tobias Carling
    • 1
    • 2
    • 3
    • 5
  1. 1.Department of SurgeryYale University School of MedicineNew HavenUSA
  2. 2.Yale Endocrine Neoplasia LaboratoryYale University School of MedicineNew HavenUSA
  3. 3.Cancer Genetics Program, Yale Cancer CenterYale University School of MedicineNew HavenUSA
  4. 4.Department of Surgical SciencesUppsala UniversityUppsalaSweden
  5. 5.Department of Surgery, Yale Endocrine Neoplasia LaboratoryYale University School of MedicineNew HavenUSA

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