{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T05:29:41Z","timestamp":1773898181517,"version":"3.50.1"},"reference-count":77,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T00:00:00Z","timestamp":1674000000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ERA-Net for Research Programmes on Rare Diseases (E-Rare; project acronym \u201cPERescue\u201d)","award":["P34723"],"award-info":[{"award-number":["P34723"]}]},{"name":"ERA-Net for Research Programmes on Rare Diseases (E-Rare; project acronym \u201cPERescue\u201d)","award":["P24843-B24"],"award-info":[{"award-number":["P24843-B24"]}]},{"name":"ERA-Net for Research Programmes on Rare Diseases (E-Rare; project acronym \u201cPERescue\u201d)","award":["I2738-B26"],"award-info":[{"award-number":["I2738-B26"]}]},{"name":"ERA-Net for Research Programmes on Rare Diseases (E-Rare; project acronym \u201cPERescue\u201d)","award":["P31082-B21"],"award-info":[{"award-number":["P31082-B21"]}]},{"name":"ERA-Net for Research Programmes on Rare Diseases (E-Rare; project acronym \u201cPERescue\u201d)","award":["P21006-B11"],"award-info":[{"award-number":["P21006-B11"]}]},{"name":"ERA-Net for Research Programmes on Rare Diseases (E-Rare; project acronym \u201cPERescue\u201d)","award":["W1232-B11"],"award-info":[{"award-number":["W1232-B11"]}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P34723"],"award-info":[{"award-number":["P34723"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P24843-B24"],"award-info":[{"award-number":["P24843-B24"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["I2738-B26"],"award-info":[{"award-number":["I2738-B26"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P31082-B21"],"award-info":[{"award-number":["P31082-B21"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["P21006-B11"],"award-info":[{"award-number":["P21006-B11"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund","doi-asserted-by":"publisher","award":["W1232-B11"],"award-info":[{"award-number":["W1232-B11"]}],"id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"publisher"}]},{"name":"RhizoKids International, a non-profit organization","award":["P34723"],"award-info":[{"award-number":["P34723"]}]},{"name":"RhizoKids International, a non-profit organization","award":["P24843-B24"],"award-info":[{"award-number":["P24843-B24"]}]},{"name":"RhizoKids International, a non-profit organization","award":["I2738-B26"],"award-info":[{"award-number":["I2738-B26"]}]},{"name":"RhizoKids International, a non-profit organization","award":["P31082-B21"],"award-info":[{"award-number":["P31082-B21"]}]},{"name":"RhizoKids International, a non-profit organization","award":["P21006-B11"],"award-info":[{"award-number":["P21006-B11"]}]},{"name":"RhizoKids International, a non-profit organization","award":["W1232-B11"],"award-info":[{"award-number":["W1232-B11"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 (Gnpat KO) to accomplish this task. Similar to a subgroup of human patients with rhizomelic chondrodysplasia punctata (RCDP), a fraction of Gnpat KO fetuses present with defects in ventricular septation, presumably evoked by a developmental delay. We did not detect any signs of cardiomyopathy but identified increased left ventricular end-systolic and end-diastolic pressure in middle-aged ether-lipid-deficient mice. By comprehensive electrocardiographic characterization, we consistently found reduced ventricular conduction velocity, as indicated by a prolonged QRS complex, as well as increased QRS and QT dispersion in the Gnpat KO group. Furthermore, a shift of the Wenckebach point to longer cycle lengths indicated depressed atrioventricular nodal function. To complement our findings in mice, we analyzed medical records and performed electrocardiography in ether-lipid-deficient human patients, which, in contrast to the murine phenotype, indicated a trend towards shortened QT intervals. Taken together, our findings demonstrate that the cardiac phenotype upon ether lipid deficiency is highly heterogeneous, and although the manifestations in the mouse model only partially match the abnormalities in human patients, the results add to our understanding of the physiological role of ether lipids and emphasize their importance for proper cardiac development and function.<\/jats:p>","DOI":"10.3390\/ijms24031884","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T02:51:37Z","timestamp":1674096697000},"page":"1884","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0852-1524","authenticated-orcid":false,"given":"Fabian","family":"Dorninger","sequence":"first","affiliation":[{"name":"Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4652-1998","authenticated-orcid":false,"given":"Attila","family":"Kiss","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18-20, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3640-1776","authenticated-orcid":false,"given":"Peter","family":"Rothauer","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology and Neuropharmacology, Center for Physiology and Pharmacology, Medical University of Vienna, W\u00e4hringerstrasse 13a, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Stiglbauer-Tscholakoff","sequence":"additional","affiliation":[{"name":"Department of Biomedical Imaging and Image-Guided Therapy, Division of Molecular and Structural Preclinical Imaging, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18-20, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0746-1403","authenticated-orcid":false,"given":"Stefan","family":"Kummer","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, W\u00e4hringer Stra\u00dfe 13, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wedad","family":"Fallatah","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, King AbdulAziz University, Jeddah 21589, Saudi Arabia"},{"name":"Department of Human Genetics and Pediatrics, Montreal Children\u2019s Hospital, McGill University, 1001 D\u00e9carie Blvd, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1033-295X","authenticated-orcid":false,"given":"Mireia","family":"Perera-Gonzalez","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18-20, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ouafa","family":"Hamza","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18-20, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa","family":"K\u00f6nig","sequence":"additional","affiliation":[{"name":"Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6178-1264","authenticated-orcid":false,"given":"Michael B.","family":"Bober","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Program, Nemours Children\u2019s Hospital, 1600 Rockland Road, Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiscar","family":"Cavall\u00e9-Garrido","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Cardiology, Montreal Children\u2019s Hospital, McGill University, 1001 D\u00e9carie Blvd, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1621-5164","authenticated-orcid":false,"given":"Nancy E.","family":"Braverman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics and Pediatrics, Montreal Children\u2019s Hospital, McGill University, 1001 D\u00e9carie Blvd, Montreal, QC H4A 3J1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Forss-Petter","sequence":"additional","affiliation":[{"name":"Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Pifl","sequence":"additional","affiliation":[{"name":"Department of Molecular Neurosciences, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Bauer","sequence":"additional","affiliation":[{"name":"Department of Neuroimmunology, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reginald E.","family":"Bittner","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna, W\u00e4hringer Stra\u00dfe 13, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3169-778X","authenticated-orcid":false,"given":"Thomas H.","family":"Helbich","sequence":"additional","affiliation":[{"name":"Department of Biomedical Imaging and Image-Guided Therapy, Division of Molecular and Structural Preclinical Imaging, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18-20, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4641-7202","authenticated-orcid":false,"given":"Bruno K.","family":"Podesser","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18-20, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannes","family":"Todt","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology and Neuropharmacology, Center for Physiology and Pharmacology, Medical University of Vienna, W\u00e4hringerstrasse 13a, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0182-2658","authenticated-orcid":false,"given":"Johannes","family":"Berger","sequence":"additional","affiliation":[{"name":"Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Spitalgasse 4, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1016\/j.bbadis.2012.05.008","article-title":"Functions of plasmalogen lipids in health and disease","volume":"1822","author":"Braverman","year":"2012","journal-title":"Biochim. 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