ArticleAmerican journal of human genetics2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 70 citations in OpenAlex.
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Authors and funding
38 authors at 12 institutions in 3 countries.
Arcangela IusoInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
Marit WiersmaDepartment of Physiology, Amsterdam Cardiovascular Sciences, VUmc, 1081 HZ Amsterdam, the Netherlands.
Hans-Joachim SchüllerInstitut für Genetik und Funktionelle Genomforschung, Ernst-Moritz-Arndt Universität, 17489 Greifswald, Germany.
Ben Pode-ShakkedMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
Dina Marek-YagelMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
Mathias GrigatInstitut für Genetik und Funktionelle Genomforschung, Ernst-Moritz-Arndt Universität, 17489 Greifswald, Germany.
Thomas SchwarzmayrInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Riccardo BeruttiInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Bader AlhaddadInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Bart KanonDepartment of Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, the Netherlands.
Nicola A GrzeschikDepartment of Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, the Netherlands.
Jürgen G OkunDivision of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
Zeev PerlesDepartment of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, 91120 Jerusalem, Israel.
Yishay SalemSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Ramat Gan, Israel.
Ortal BarelSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Amir VardiSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Marina RubinshteinDepartment of Pediatric Critical Care Medicine, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Tal TiroshSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Ramat Gan, Israel.
Gal Dubnov-RazSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Exercise, Nutrition and Lifestyle clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Ana C MessiasInstitute of Structural Biology, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Center for Integrated Protein Science Munich at Biomolecular NMR Spectroscopy, Department Chemistry, Technische Universität München, 85747 Garching, Germany.
Caterina TerrileInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Iris BarshackSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pathology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Alex VolkovSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pathology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Camilla AviviSackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Pathology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Eran EyalSheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
Elisa MastantuonoInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Muhamad KumbarClalit Health Services, 93133 Jerusalem, Israel.
Shachar AbudiMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
Matthias BraunischInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany.
Tim M StromInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Thomas MeitingerInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
Georg F HoffmannDivision of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany.
Holger ProkischInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Tobias B HaackInstitute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Bianca J J M BrundelDepartment of Physiology, Amsterdam Cardiovascular Sciences, VUmc, 1081 HZ Amsterdam, the Netherlands.
Dorothea HaasDivision of Neuropediatrics and Metabolic Medicine, University Children's Hospital, 69120 Heidelberg, Germany. Electronic address: dorothea.haas@med.uni-heidelberg.de.
Ody C M SibonDepartment of Cell Biology, University of Groningen, University Medical Center Groningen, 9713 AV Groningen, the Netherlands.
Yair AniksterMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel. Electronic address: yair.anikster@sheba.health.gov.il.
Technical University of Munich · DEEdmond and Lily Safra Children's Hospital · ILTel Aviv University · ILSheba Medical Center · ILHelmholtz Zentrum München · DEUniversity Hospital Heidelberg · DEUniversität Greifswald · DEUniversity of Groningen · NLClalit Health Services · ILGerman Centre for Cardiovascular Research · DEHadassah Medical Center · ILUniversity Medical Center Groningen · NL
Funding
No grant is acknowledged in the PubMed record.
Abstract
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and cysteine to form phosphopantothenoylcysteine. Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration. Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS, linking CoA synthesis with a cardiac phenotype. Studies in yeast and fruit flies confirmed the pathogenicity of identified mutations. Biochemical analysis revealed a decrease in CoA levels in fibroblasts of all affected individuals. CoA biosynthesis can occur with pantethine as a source independent from PPCS, suggesting pantethine as targeted treatment for the affected individuals still alive.
Indexed as
Genes, RecessiveAmino Acid SequenceAnimalsBiosynthetic PathwaysCardiomyopathy, DilatedCarnitineChild, PreschoolCoenzyme ADemographyDrosophilaEnzyme StabilityFemaleFibroblastsHeartHigh-Throughput Nucleotide SequencingHomozygoteacylcarnitineCarnitineCoenzyme APantetheinepantethinePeptide Synthasesphosphopantothenoyl-cysteine synthetasecoenzyme Adilated cardiomyopathypantethine treatmentpentothenatephospohopantothenoylcysteine synthetasePPCS
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