Dataset Information

An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.

ABSTRACT: In the pituitary gland, activating mutations of the GNAS1 (Gsalpha) gene at Gln227 have been identified in adrenocorticotrophin secreting, growth hormone secreting, and prolactin secreting adenomas. To date, mutations at the codon encoding R201, typically underlying the McCune-Albright syndrome and isolated fibrous dysplasia of bone, have been demonstrated only in growth hormone secreting pituitary adenomas. In this study, a polymerase chain reaction amplified target sequence in exon 8 of the GNAS1 gene was sequenced, identifying the first R201 mutation seen in an isolated basophilic adenoma which generated Cushing's disease in a child. This case adds Cushing's disease to the range of human diseases caused by R201 mutations of the GNAS1 gene.

SUBMITTER: Riminucci M

PROVIDER: S-EPMC1187148 | biostudies-literature | 2002 Feb

REPOSITORIES: biostudies-literature

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An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.

Riminucci M M Collins M T MT Lala R R Corsi A A Matarazzo P P Gehron Robey P P Bianco P P

Molecular pathology : MP 20020201 1

In the pituitary gland, activating mutations of the GNAS1 (Gsalpha) gene at Gln227 have been identified in adrenocorticotrophin secreting, growth hormone secreting, and prolactin secreting adenomas. To date, mutations at the codon encoding R201, typically underlying the McCune-Albright syndrome and isolated fibrous dysplasia of bone, have been demonstrated only in growth hormone secreting pituitary adenomas. In this study, a polymerase chain reaction amplified target sequence in exon 8 of the GN ...[more]

PMID: 11836449

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Project description:The aim of the current study was to investigate the pathogenesis of pituitary adenoma through screening of the differentially-expressed genes (DEGs) and proteins in normal pituitary and pituitary adenoma tissues, and analyzing the interactions among them. Following the acquisition of gene expression profiling data from a public functional genomics data repository, Gene Expression Omnibus, DEGs were screened in normal pituitary and pituitary adenoma tissues. Upregulated and downregulated DEGs were further identified through gene ontology functional enrichment analysis. Subsequently, the DEGs were mapped to the Search Tool for the Retrieval of Interacting Genes database, and the protein-protein interaction (PPI) networks of the upregulated and downregulated DEGs were constructed. Finally, the functional modules of the PPI network of the downregulated DEGs were analyzed. In total, 211 upregulated and 413 downregulated DEGs were screened between the normal pituitary and pituitary adenoma samples. Downregulated DEGs were associated with certain functions, including the immune response, hormone regulation and cell proliferation. Upregulated genes were associated with cation transport functions. Five modules were acquired from the PPI network of the downregulated DEGs. Transcription factors, including signal transducer and activator of transcription 3 (STAT3), interleukin 6 (IL-6), B-cell lymphoma 6 protein, early growth response 1, POU1F1, jun B proto-oncogene and FOS were the core nodes in the functional modules. In summary, the DEGs and proteins were identified through screening gene expression profiling and PPI networks. The results of the present study indicated that low expression levels of hormone- and immune-related genes facilitated the occurrence of pituitary adenoma. Low expression levels of IL-6 and STAT3 were significant in the dysimmunity of pituitary adenoma. Furthermore, the low expression level of POU1F1 contributed to the reduction in pituitary hormone secretion.

Dataset Information

An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.

Publications

An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.

Similar Datasets

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