Background: Mutations of the genes encoding the α subunit of the stimulatory G protein (Gs) and of the inhibiting Gi2 protein (GNASI and GNAI2 genes, respectively) have been described in various endocrine neoplasias, including pituitary tumors. Aim: To search for mutations of GNASI and GNAI2 in a continuous series of non-functioning pituitary adenoma (NF-PA) patients neurosurgically treated. Subjects and methods: The surgical samples of 22 patients who have been defined and characterized on a clinical, biochemical, histological, and immunohistochemical point of view have been processed for investigating the presence of the above mutations by PCR amplification of the hot spots exons 8 and 9 of GNASI, and exons 5 and 6 of GNAI2, followed by direct sequencing. Moreover, the promoter region of GNAI2, in order to assess the prevalence of single nucleotide polymorphisms (SNP), was investigated in the same series. Results: A CGT>TGT mutation at codon 201 of GNASI gene in a single case of NFPA was found, but no mutation of GNAI2A was demonstrated. Conclusions: This finding suggests and confirms that G-protein mutations are rare and not crucial in NFPA development. Additionally, we found a silent SNP at codon 318 in the promoter of the Gi2α gene in one out of the 22 NFPA.
|Number of pages||4|
|Journal||Journal of Endocrinological Investigation|
|Publication status||Published - Nov 2008|
- 318C>G singre nucleotide polymorphism
- Non-functioning pituitary adenomas
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism