What question did this study set out to answer?

To determine the molecular mechanisms by which inherited inactivating and activating mutations alter the signaling and functional activity of the extracellular calcium-sensing receptor.

August 1, 1996Journal of Biological ChemistryOpen Access

Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor

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Authors

MBMei BaiChildren's Hospital of Fudan University SQSteven QuinnRush University Medical Center STSunita TrivediSaint Vincent Hospital

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Implication

In vitro study reveals functional mechanisms of calcium-sensing receptor mutations in human cell models, indicating distinct molecular pathways in genetic calcium disorders.

Key Points

To determine the molecular mechanisms by which inherited inactivating and activating mutations alter the signaling and functional activity of the extracellular calcium-sensing receptor.
Transiently expressed eight known human calcium-sensing receptor (CaR) mutations in human embryonic kidney (HEK293) cells.
Evaluated receptor activation by measuring extracellular calcium- and gadolinium-stimulated increases in cytosolic calcium concentrations.
Seven inactivating mutations linked to familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism reduced receptor activity via decreased agonist affinity, impaired maturation from high-mannose to complex glycosylated forms, or defective G protein coupling.
One activating mutation linked to autosomal dominant hypocalcemia enhanced functional activity by increasing receptor affinity for extracellular agonists.

Cite This Study

Bai et al. (1996) studied this question.

synapsesocial.com/papers/6a89b49c186271ac99334c4d https://doi.org/10.1074/jbc.271.32.19537

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Implication

In vitro study reveals functional mechanisms of calcium-sensing receptor mutations in human cell models, indicating distinct molecular pathways in genetic calcium disorders.

Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor

Discussion

Member takes

Implication

Key Points

Cite This Study

Expression and Characterization of Inactivating and Activating Mutations in the Human Ca2+-sensing Receptor

Discussion

Member takes

Implication

Key Points

Cite This Study

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