Related Experiment Video
Updated: Jun 14, 2026
12:30
Monitoring ER/SR Calcium Release with the Targeted Ca2+ Sensor CatchER+
Published on: May 19, 2017
Calcium-sensing receptor and associated diseases.
Geoffrey N Hendy1, Vito Guarnieri, Lucie Canaff
1Department of Medicine, McGill University, Calcium Research Laboratory, Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, Canada.
Progress in Molecular Biology and Translational Science
|April 9, 2010
Summary
Genetic defects in the calcium-sensing receptor (CASR) disrupt calcium homeostasis, leading to hypercalcemia or hypocalcemia. Understanding CASR function is key to treating mineral ion disorders.
Area of Science:
- Biochemistry
- Genetics
- Endocrinology
Background:
- The calcium-sensing receptor (CASR) plays a critical role in regulating parathyroid hormone (PTH) secretion and renal mineral ion handling.
- Genetic variations in CASR are linked to significant disorders of mineral ion homeostasis.
Purpose of the Study:
- To summarize the diverse clinical manifestations and genetic underpinnings of CASR-related disorders.
- To highlight the therapeutic potential of CASR modulators.
Main Methods:
- Review of genetic mutations affecting CASR function.
- Analysis of clinical phenotypes associated with CASR abnormalities.
- Discussion of pharmacological targeting of CASR.
Main Results:
- Loss-of-function CASR mutations cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT).
- Activating CASR mutations lead to autosomal dominant hypocalcemia (ADH).
- Autoantibodies against CASR can mimic genetic disorders.
Conclusions:
- CASR mutations result in a spectrum of mineral ion disorders, from mild hypercalcemia to severe neonatal hyperparathyroidism and hypocalcemia.
- CASR-targeted therapies, including calcimimetics and calcilytics, offer potential treatment strategies for these conditions.
Related Concept Videos
01:16Calmodulin-dependent Signaling
Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
01:21Skeleton and Calcium Homeostasis
Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
01:27Feedback Regulation of Calcium Concentration
Calcium is an essential signaling molecule required for various cellular functions. Calcium pumps and ion channels on cell and organellar membranes, such as those on the endoplasmic reticulum (ER), regulate calcium concentrations inside the cell. They remain closed, keeping the cytosolic calcium levels low at a resting state.
Various transmembrane receptors, such as G protein-coupled receptors (GPCRs), elicit a response to extracellular signals by increasing cytosolic calcium. Activated GPCRs...
Various transmembrane receptors, such as G protein-coupled receptors (GPCRs), elicit a response to extracellular signals by increasing cytosolic calcium. Activated GPCRs...
01:25Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT
Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
00:51Synthesis and Functions of Calcitonin
Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
01:30Ligand-Gated Ion Channel Receptor: Gating Mechanism
Ligand-gated ion channels are transmembrane proteins that play a vital role in intercellular communication and functions of the nervous system. They allow the influx of ions across the membrane once the neurotransmitter binds, allowing the subsequent transmission of electrical excitation across the neurons. Other ligand-gated ion channels, like the γ-aminobutyric acid (GABA) receptor, permit anions like chloride into the cells on the binding of the GABA molecule. Their entry into the cell...