An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling.

ABSTRACT:

Background

Hyperparathyroidism (HPT) is a common endocrine disorder with incompletely understood etiology, characterized by enlarged hyperactive parathyroid glands and increased serum concentrations of parathyroid hormone and ionized calcium. We have recently reported activation of the Wnt signaling pathway by accumulation of beta-catenin in all analyzed parathyroid tumors from patients with primary HPT (pHPT) and in hyperplastic parathyroid glands from patients with uremia secondary to HPT (sHPT). Mechanisms that may account for this activation have not been identified, except for a few cases of beta-catenin (CTNNB1) stabilizing mutation in pHPT tumors.

Methods and findings

Reverse transcription PCR and Western blot analysis showed expression of an aberrantly spliced intern

SUBMITTER: Bjorklund P 

PROVIDER: S-EPMC2082644 | biostudies-literature | 2007 Nov

REPOSITORIES: biostudies-literature