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Alterations in the suppressor gene PPP2R1B in parathyroid hyperplasias and adenomas
Samuli Hemmer1, Veli Matti Wasenius, Caj Haglund
1Department of Oncology, Haartmaninkatu 4, P.O. Box 180, FIN-00029 HUS, Helsinki, Finland.
Abstract:
Deletion of chromosome 11q23 is a common alteration in parathyroid adenomas and hyperplasias. A new potential suppressor gene PPP2R1B encoding the beta isoform of the A subunit of the serine/threorine protein phosphatase 2A was recently identified and localized to chromosome 11q23. We performed polymerase chain reaction-based single-strand conformation polymorphism and direct sequencing on six parathyroid hyperplasias and 12 adenomas to evaluate the role of PPP2R1B in the pathogenesis of parathyroid lesions. A previously identified germline G-A transition (GGC-GAC) in codon 90, changing glycine (Gly) to aspartic acid (Asp), was detected in one adenoma. Both the common Gly allele and the variant Asp allele were detected by direct sequencing in the patient's somatic cells. We conclude mutations of PPP2R1B are not frequent in parathyroid lesions, and that other genes located at 11q23 may be more closely associated with pathogenesis of parathyroid hyperplasia and adenoma.
Insights
Mutations in the PPP2R1B gene are uncommon in parathyroid tumors. Researchers found other 11q23 genes are more likely involved in parathyroid hyperplasia and adenoma development.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Chromosome 11q23 alterations are frequent in parathyroid adenomas and hyperplasias.
- PPP2R1B, a potential tumor suppressor gene, is located at 11q23 and encodes a subunit of protein phosphatase 2A.
- The role of PPP2R1B in parathyroid lesion pathogenesis requires investigation.
Purpose of the Study:
- To evaluate the frequency and role of PPP2R1B mutations in parathyroid hyperplasia and adenomas.
- To determine if PPP2R1B alterations contribute to the development of these parathyroid lesions.
Main Methods:
- Polymerase chain reaction-based single-strand conformation polymorphism (PCR-SSCP) was used.
- Direct sequencing was performed on DNA from six parathyroid hyperplasias and 12 adenomas.
- Germline and somatic mutations were analyzed.
Main Results:
- A known germline G-A transition (Gly90Asp) in PPP2R1B was identified in one parathyroid adenoma.
- Both the wild-type Gly allele and the variant Asp allele were present in the patient's somatic cells.
- No other PPP2R1B mutations were detected in the analyzed samples.
Conclusions:
- Mutations in PPP2R1B are not a frequent cause of parathyroid hyperplasia or adenoma.
- Other genes located on chromosome 11q23 are more likely implicated in the pathogenesis of these parathyroid conditions.
- Further research should focus on alternative 11q23 genes.