Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism
| Autor: | Peyman Björklund, Tobias Carling, Robert Udelsman, Alberto Delgado-Verdugo, Lee F. Starker |
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| Rok vydání: | 2010 |
| Předmět: |
Male
endocrine system diseases Tumor suppressor gene Endocrinology Diabetes and Metabolism DNA Mutational Analysis Gene Expression Biology Polymorphism Single Nucleotide Mitochondrial Proteins Loss of heterozygosity Endocrinology Gene Frequency medicine Humans Genes Tumor Suppressor MEN1 Aged Regulation of gene expression Hyperparathyroidism Base Sequence Middle Aged Hyperparathyroidism Primary medicine.disease Gene Expression Regulation Neoplastic Neuroendocrine Tumors Parathyroid Neoplasms SDHAF2 Gene Mutation Chromosomal region Cancer research Female Primary hyperparathyroidism |
| Zdroj: | Endocrine. 38:397-401 |
| ISSN: | 1559-0100 1355-008X |
| DOI: | 10.1007/s12020-010-9399-0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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