title: Can folic acid have a role in mitochondrial disorders?
abstract: Cellular folate metabolism is highly compartmentalized, with mitochondria folate transport and metabolism being distinct from the well-known cytosolic folate metabolism. There is evidence supporting the association between low folate status and mitochondrial DNA (mtDNA) instability, and cerebral folate deficiency is relatively frequent in mitochondrial disorders. Furthermore, folinic acid supplementation has been reported to be beneficial not only in some patients with mitochondrial disease, but also in patients with relatively common diseases where folate deficiency might be an important pathophysiological factor. In this review, we focus on the evidence that supports the potential involvement of impaired folate metabolism in the pathophysiology of mitochondrial disorders.
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases, Barcelona, Spain.
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazabal
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases, Barcelona, Spain.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Casado
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases, Barcelona, Spain; CIBERER-ISCIII, Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Molero-Luis
authors.affiliation: Biochemistry, Molecular, and Cellular Biology Department, University of Zaragoza, Zaragoza, Spain; CIBERER-ISCIII, Madrid, Spain.
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
authors.affiliation: Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK; Metabolic Unit, Great Ormond Street Hospital, London, UK.
authors.forename: Shamima
authors.initials: S
authors.lastname: Rahman
authors.affiliation: Chemical Pathology, Great Ormond Street Hospital, London, UK; UCL Institute of Child Health, London, UK.
authors.forename: Sophie-Beth
authors.initials: SB
authors.lastname: Aylett
authors.affiliation: Neurometabolic Unit, National Hospital, Queen Square, London, UK.
authors.forename: Iain
authors.initials: I
authors.lastname: Hargreaves
authors.affiliation: Chemical Pathology, Great Ormond Street Hospital, London, UK; UCL Institute of Child Health, London, UK; Neurometabolic Unit, National Hospital, Queen Square, London, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Heales
authors.affiliation: Clinical Biochemistry Department, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases, Barcelona, Spain; CIBERER-ISCIII, Madrid, Spain. Electronic address: rartuch@hsjdbcn.org.
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000818:Animals; D001692:Biological Transport / Q000502:physiology; D004272:DNA, Mitochondrial / Q000378:metabolism; D005492:Folic Acid / Q000378:metabolism*; D005494:Folic Acid Deficiency / Q000150:complications* / Q000188:drug therapy; D006801:Humans; D002955:Leucovorin / Q000008:administration & dosage; D008928:Mitochondria / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000188:drug therapy / Q000503:physiopathology*
chemical_list: D004272:DNA, Mitochondrial; D005492:Folic Acid; D002955:Leucovorin