Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.

cardiac disease ether lipid left ventricular hypertrophy peroxisome plasmalogen rhizomelic chondrodysplasia punctata

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
18 Jan 2023
Historique:
received: 28 11 2022
revised: 10 01 2023
accepted: 11 01 2023
entrez: 11 2 2023
pubmed: 12 2 2023
medline: 15 2 2023
Statut: epublish

Résumé

Inherited deficiency in ether lipids, a subgroup of glycerophospholipids with unique biochemical and biophysical properties, evokes severe symptoms in humans resulting in a multi-organ syndrome. Mouse models with defects in ether lipid biosynthesis have widely been used to understand the pathophysiology of human disease and to study the roles of ether lipids in various cell types and tissues. However, little is known about the function of these lipids in cardiac tissue. Previous studies included case reports of cardiac defects in ether-lipid-deficient patients, but a systematic analysis of the impact of ether lipid deficiency on the mammalian heart is still missing. Here, we utilize a mouse model of complete ether lipid deficiency (

Identifiants

pubmed: 36768204
pii: ijms24031884
doi: 10.3390/ijms24031884
pmc: PMC9914995
pii:
doi:

Substances chimiques

Ether 0F5N573A2Y
Ethers 0
Ethyl Ethers 0
Plasmalogens 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : FWF Austrian Science Fund
ID : P24843-B24
Organisme : FWF Austrian Science Fund
ID : I2738-B26
Organisme : FWF Austrian Science Fund
ID : P31082-B21
Organisme : FWF Austrian Science Fund
ID : P34723

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Auteurs

Fabian Dorninger (F)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria.

Attila Kiss (A)

Center for Biomedical Research, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Peter Rothauer (P)

Department of Neurophysiology and Neuropharmacology, Center for Physiology and Pharmacology, Medical University of Vienna, Währingerstrasse 13a, 1090 Vienna, Austria.

Alexander Stiglbauer-Tscholakoff (A)

Department of Biomedical Imaging and Image-Guided Therapy, Division of Molecular and Structural Preclinical Imaging, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Stefan Kummer (S)

Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Währinger Straße 13, 1090 Vienna, Austria.

Wedad Fallatah (W)

Department of Genetic Medicine, King AbdulAziz University, Jeddah 21589, Saudi Arabia.
Department of Human Genetics and Pediatrics, Montreal Children's Hospital, McGill University, 1001 Décarie Blvd, Montreal, QC H4A 3J1, Canada.

Mireia Perera-Gonzalez (M)

Center for Biomedical Research, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Ouafa Hamza (O)

Center for Biomedical Research, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Theresa König (T)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria.

Michael B Bober (MB)

Skeletal Dysplasia Program, Nemours Children's Hospital, 1600 Rockland Road, Wilmington, DE 19803, USA.

Tiscar Cavallé-Garrido (T)

Department of Pediatrics, Division of Cardiology, Montreal Children's Hospital, McGill University, 1001 Décarie Blvd, Montreal, QC H4A 3J1, Canada.

Nancy E Braverman (NE)

Department of Human Genetics and Pediatrics, Montreal Children's Hospital, McGill University, 1001 Décarie Blvd, Montreal, QC H4A 3J1, Canada.

Sonja Forss-Petter (S)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria.

Christian Pifl (C)

Department of Molecular Neurosciences, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria.

Jan Bauer (J)

Department of Neuroimmunology, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria.

Reginald E Bittner (RE)

Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, Währinger Straße 13, 1090 Vienna, Austria.

Thomas H Helbich (TH)

Department of Biomedical Imaging and Image-Guided Therapy, Division of Molecular and Structural Preclinical Imaging, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Bruno K Podesser (BK)

Center for Biomedical Research, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.

Hannes Todt (H)

Department of Neurophysiology and Neuropharmacology, Center for Physiology and Pharmacology, Medical University of Vienna, Währingerstrasse 13a, 1090 Vienna, Austria.

Johannes Berger (J)

Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria.

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