ArticleAmerican journal of human genetics2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
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Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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48citing papers in PubMed
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48 citing papers in PubMed, 103 citations in OpenAlex.
- Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder.Molecular genetics & genomic medicine · 2026Article
- Therapeutic Advances in Major NBIA Disorders: Current Strategies and Translational Challenges.Neurology international · 2026Review
- Functional partitioning of lipoic acid decouples cellular abundance from mitochondrial utilization.bioRxiv : the preprint server for biology · 2026Article
- The mitochondrial trans-2-enoyl-CoA reductase is necessary for mitochondrial homeostasis in C. elegans.Genetics · 2025Article
- A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formation.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Mitochondrial fatty acid synthesis and MECR regulate CD4+ T cell function and oxidative metabolism.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Mitochondrial NADPH fuels mitochondrial fatty acid synthesis and lipoylation to power oxidative metabolism.Nature cell biology · 2025Article
- Fatty acid metabolism related gene MECR contributes to the progression of prostate cancer.Cancer cell international · 2025Article
- Identification of DownregulatedInternational journal of molecular sciences · 2025Article
- Mitochondria in Retinal Ganglion Cells: Unraveling the Metabolic Nexus and Oxidative Stress.International journal of molecular sciences · 2024Review
- Mitochondrial fatty acid synthesis is an emergent central regulator of mammalian oxidative metabolism.Cell metabolism · 2024Review
- Editorial: Movement disorders in neurometabolic conditions.Frontiers in neurology · 2024Article
- RecessiveJournal of medical genetics · 2023Article
- A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.Nature metabolism · 2023Article
- Recessive pathogenic variants ineLife · 2023Article
- An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration.Nature communications · 2023Article
- Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome.Frontiers in neurology · 2023Article
- Mitochondrial Triglyceride Dysregulation in Optic Nerves Following Indirect Traumatic Optic Neuropathy.Biomolecules · 2022Article
- Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.Human mutation · 2022Article
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Authors and funding
36 authors at 11 institutions in 6 countries.
Gali HeimerPediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Pinchas Borenstein Talpiot Medical Leadership Program, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
Juha M KerätärFaculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
Lisa G RileyGenetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia.
Shanti BalasubramaniamWestern Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Department of Rheumatology and Metabolic Medicine, Princess Margaret Hospital, Perth, WA 6000, Australia.
Eran EyalCancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Laura P PietikäinenFaculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
J Kalervo HiltunenFaculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
Dina Marek-YagelMetabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Jeffrey HamadaDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Allison GregoryDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Caleb RogersDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.
Penelope HogarthDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA.
Martha A NanceStruthers Parkinson's Center, Golden Valley, MN 55427, USA.
Nechama ShalvaMetabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Alvit VeberMetabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Michal TzadokPediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Andreea NissenkornPediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
Davide TondutiChild Neurology Department, Foundation IRCCS, Neurological Institute C. Besta, 20133 Milan, Italy.
Florence RenaldoDepartment of Neuropediatrics and Metabolic Diseases; Robert Debré Hospital, 75019 Paris, France.
University of Washington Center for Mendelian Genomics
Ichraf KraouaDepartment of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, 1007 Tunis, Tunisia.
Celeste PanteghiniUnit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
Lorella VallettaUnit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
Barbara GaravagliaUnit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; St Vincent's Clinical School, University of NSW, Sydney, NSW 2010, Australia.
Velimir GayevskiyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
Tony RoscioliKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; St Vincent's Clinical School, University of NSW, Sydney, NSW 2010, Australia.
Jonathon M SilbersteinNeurology Department, Princess Margaret Hospital, Perth, WA 6000, Australia.
Chen HoffmannDiagnostic Imaging Unit, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Annick Raas-RothschildThe Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel.
Valeria TirantiUnit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, 20126 Milan, Italy.
Yair AniksterMetabolic Disease Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
John ChristodoulouGenetic Metabolic Disorders Research Unit, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW 2145, Australia; Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Alexander J KastaniotisFaculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu 90014, Finland.
Bruria Ben-ZeevPediatric Neurology Unit, Edmond and Lily Children's Hospital, Chaim Sheba Medical Center, 52621 Ramat Gan, Israel; The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel. Electronic address: bruria.benzeev@sheba.health.gov.il.
Susan J HayflickDepartment of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA; Department of Neurology, Oregon Health & Science University, Portland, OR 97239, USA; Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: hayflick@ohsu.edu.
Sheba Medical Center · ILEdmond and Lily Safra Children's Hospital · ILOregon Health & Science University · USUniversity of Oulu · FIGarvan Institute of Medical Research · AUChildren's Hospital at Westmead · AUHôpital Robert-Debré · FRNational Institute of Neurology Mongi-Ben Hamida · TNPrincess Margaret Hospital for Children · AUUniversity of Melbourne · AUUniversity of Sydney · AU
Funding
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MNHGRI NIH HHS UM1 HG006493
Abstract
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. All affected individuals were found to harbor recessive mutations in MECR encoding the mitochondrial trans-2-enoyl-coenzyme A-reductase involved in human mtFAS. All six mutations are extremely rare in the general population, segregate with the disease in the families, and are predicted to be deleterious. The nonsense c.855T>G (p.Tyr285
Indexed as
MutationBasal GangliaCells, CulturedChildChild, PreschoolDystonic DisordersFatty AcidsFemaleFibroblastsGenetic Complementation TestHumansInfantMaleMitochondriaMitochondrial DiseasesModels, MolecularFatty AcidsOxidoreductases Acting on CH-CH Group DonorsRNA Splice Sitestrans-2-enoyl-CoA reductase (NADPH)
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