A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects.

Bone Calcium-sensing receptor Fibroblast growth factor 23 Kidney Mouse model Parathyroid hormone

Journal

Pflugers Archiv : European journal of physiology
ISSN: 1432-2013
Titre abrégé: Pflugers Arch
Pays: Germany
ID NLM: 0154720

Informations de publication

Date de publication:
22 Feb 2024
Historique:
received: 19 12 2023
accepted: 12 02 2024
revised: 11 02 2024
medline: 22 2 2024
pubmed: 22 2 2024
entrez: 22 2 2024
Statut: aheadofprint

Résumé

The Calcium-sensing receptor (CaSR) senses extracellular calcium, regulates parathyroid hormone (PTH) secretion, and has additional functions in various organs related to systemic and local calcium and mineral homeostasis. Familial hypocalciuric hypercalcemia type I (FHH1) is caused by heterozygous loss-of-function mutations in the CaSR gene, and is characterized by the combination of hypercalcemia, hypocalciuria, normal to elevated PTH, and facultatively hypermagnesemia and mild bone mineralization defects. To date, only heterozygous Casr null mice have been available as model for FHH1. Here we present a novel mouse FHH1 model identified in a large ENU-screen that carries an c.2579 T > A (p.Ile859Asn) variant in the Casr gene (Casr

Identifiants

DOI: 10.1007/s00424-024-02927-y PMID: 38386045
pubmed: 38386045
doi: 10.1007/s00424-024-02927-y
pii: 10.1007/s00424-024-02927-y
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : INFRAFRONTIER
ID : 01KX1012
Organisme : Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
ID : 176125

Informations de copyright

© 2024. The Author(s).

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Auteurs

Catharina J Küng (CJ)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

Arezoo Daryadel (A)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

Rocio Fuente (R)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.
Department of Morphology and Cellular Biology, University of Oviedo, Oviedo, Spain.

Betül Haykir (B)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

Martin Hrabĕ de Angelis (MH)

Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Lehrstuhl Für Experimentelle Genetik, Technische Universität München, Freising-Weihenstephan, Germany.
Member of German Center for Diabetes Research (DZD), Neuherberg, Germany.

Nati Hernando (N)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

Isabel Rubio-Aliaga (I)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland.

Carsten A Wagner (CA)

Institute of Physiology, University of Zürich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland. Wagnerca@access.uzh.ch.
ORCID: 0000-0002-9874-8898

Classifications MeSH