2. Academic Validation
  3. Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

  • Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w.
Àngels García-Cazorla 1 2,  Edgard Verdura 3 4,  Natalia Juliá-Palacios 5 3,  Eric N Anderson 6,  Leire Goicoechea 3 4,  Laura Planas-Serra 3 4,  Enkhtuul Tsogtbaatar 7 8 9,  Nikita R Dsouza 10,  Agatha Schlüter 3 4,  Roser Urreizti 3 11,  Jessica M Tarnowski 12 13,  Ralitza H Gavrilova 12 13,  SHMT2 Working Group,  Montserrat Ruiz 3 4,  Agustí Rodríguez-Palmero 3 4 14,  Stéphane Fourcade 3 4,  Benjamin Cogné 15,  Thomas Besnard 15,  Marie Vincent 15,  Stéphane Bézieau 15,  Clifford D Folmes 7 8 9,  Michael T Zimmermann 10 16,  Eric W Klee 12 17 18,  Udai Bhan Pandey 6,  Rafael Artuch 3 11,  Margot A Cousin 17 18,  Aurora Pujol 19 20 21
Affiliations

Affiliations

  • 1 Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain. agarcia@sjdhospitalbarcelona.org.
  • 2 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. agarcia@sjdhospitalbarcelona.org.
  • 3 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
  • 4 Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • 5 Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
  • 6 Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, 15224, USA.
  • 7 Department of Cardiovascular Medicine, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • 8 Department of Biochemistry and Molecular Biology, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • 9 Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Scottdale, AZ, 85260, USA.
  • 10 Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
  • 11 Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain.
  • 12 Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA.
  • 13 Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.
  • 14 Department of Pediatrics, Paediatric Neurology Unit, University Hospital Germans Trias i Pujol, 08916, Badalona, Catalonia, Spain.
  • 15 Service de Génétique Médicale, CHU de Nantes, and INSERM, CNRS, Université de Nantes, l'Institut du Thorax, Nantes, 44000, Nantes, Pays de la Loire, France.
  • 16 Clinical and Translational Science Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
  • 17 Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
  • 18 Department of Health Sciences Research, Mayo Clinic, Rochester, MN, 55905, USA.
  • 19 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. apujol@idibell.cat.
  • 20 Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. apujol@idibell.cat.
  • 21 Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Catalonia, Spain. apujol@idibell.cat.
PMID: 33015733 DOI: 10.1007/s00401-020-02223-w
Keywords

Cardiomyopathy; Congenital microcephaly; Mitochondrial one-carbon metabolism; Perisylvian polymicrogyria; SHMT2.

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