Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome PMID: 33015733

ADC Targets in Oncology

2026-04-10

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

1. Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, 08950, Barcelona, Catalonia, Spain. [email protected].
2. Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. [email protected].
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. [email protected].
20. Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. [email protected].
21. Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Catalonia, Spain. [email protected].

Keywords

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