Preliminary evidence for involvement of the folate gene polymorphism 19 bp deletion-DHFR in occurrence of autism
Section snippets
Acknowledgements
This work was funded by Hunter Children's Research Foundation and the Faculty of Science & IT, University of Newcastle, Australia.
References (37)
Homocysteine and folate metabolism in depression
Prog. Neuropsychopharmacol. Biol. Psychiatry
(2005)- et al.
G80A reduced folate carrier SNP influences the absorption and cellular translocation of dietary folate and its association with blood pressure in an elderly population
Life Sci.
(2006) - et al.
In vivo characterisation of the absorption and biotransformation of pteroylglutamic acid in man: A model for future studies
Biochem. Med. Metab. Biol.
(1989) - et al.
Bioavailability of polyglutamyl folic acid relative to that of monoglutamyl folic acid in subjects with different genotypes of the glutamate carboxypeptidase II gene
Am. J. Clin. Nutr.
(2004) - et al.
Urinary levels of neopterin and biopterin in autism
Neurosci. Lett.
(1998) - et al.
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
Lancet
(1995) - et al.
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects?
Am. J. Hum. Genet.
(1998) - et al.
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
Mol. Genet. Metab.
(1999) - et al.
Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients
Kidney Int.
(2003) - et al.
Association of MTHFR gene variants with autism
J. Am. Phys. Surg.
(2004)
Is infantile autism a hypoglutamatergic disorder? Relevance of glutamate-serotonin interactions for pharmacotherapy
J. Neural. Transm.
Genetics of autism: complex aetiology for a heterogeneous disorder
Nat. Rev. Genet.
Antagonism by folic acid of presynaptic inhibition in the rat cunneate nucleus
Br. J. Pharmacol.
VPA-induced neural tube defects in mice. I. Altered metabolism of sulfur amino acids and glutathione
Teratog. Carcino. Mutagen.
Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism
Am. J. Med. Genet. B Neuropsychiatr. Genet.
New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy?
Am. J. Med. Genet.
Modulation of potassium evoked secretory function in rat cerebellar slices measured by real time monitoring: evidence of a possible role for methylfolate in cerebral tissue
Neurochem. Res.
Is folic acid the ultimate functional food component for disease prevention?
BMJ
Cited by (58)
Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder
2020, Seminars in Pediatric NeurologyBlood homocysteine levels in children with autism spectrum disorder: An updated systematic review and meta-analysis
2020, Psychiatry ResearchCitation Excerpt :The details of the included 31 studies were displayed in Table 1. Two studies were conducted in Australia (Adams et al., 2007; Main et al., 2015), 13 in China (Cai et al., 2016; Han et al., 2015; Ning et al., 2019; Sun et al., 2016; Sun C et al., 2018; Sun Y et al., 2018; Tu et al., 2012, 2013; Wang et al., 2016; Yan et al., 2015; Zhang et al., 2015; Zhou and Li, 2018; Zou et al., 2019), 1 in India (Shaik Mohammad et al., 2016), 2 in Oman (Al-Farsi et al., 2013; Hodgson et al., 2014), 2 in Romania (Paşca et al., 2006; Paşca et al., 2009), 1 in Spain (Parellada et al., 2012), 3 in Turkey (Altun et al., 2018; Bala et al., 2016; Yektas et al., 2019), and 7 in the United States (Adams et al., 2011b; Howsmon et al., 2017; James et al., 2004; James et al., 2006; James et al., 2009; Pastural et al., 2009; Suh et al., 2008). Twenty-nine articles were published in English language; the remaining 2 articles (Sun C et al., 2018; Sun Y et al., 2018) were published in non-English language (Chinese).
Oxidative stress, metabolic and mitochondrial abnormalities associated with autism spectrum disorder
2020, Progress in Molecular Biology and Translational SciencePericonceptional folate deficiency leads to autism-like traits in Wistar rat offspring
2018, Neurotoxicology and TeratologyCitation Excerpt :Several small case-control studies have reported abnormalities in biochemical parameters reflecting low functional folate status in autistic children (James et al., 2004; Naushad et al., 2013; Paşca et al., 2006), such as decreased methionine, increased homocysteine, and low blood SAM:SAH ratio. Several case-control studies reported significantly increased frequencies of common mutations affecting the folate/methylation cycle including in the MTHFR enzyme (Boris et al., 2004; Djukic, 2007), as well as in the folate receptor, RFC-1 (Adams et al., 2007; James et al., 2006), in autistic subjects. Methotrexate, which depletes folate bio-availability and is used to treat childhood leukemia, has been reported to induce autistic traits in previously neurotypical children (Kamen and Chukoskie, 2011).
Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder
2015, Epilepsy and BehaviorCitation Excerpt :Several folate metabolism abnormalities have been linked to ASD. Polymorphisms in key folate pathway enzymes such as methylenetetrahydrofolate reductase [47–56], dihydrofolate reductase [57], and the reduced folate carrier [55] have been associated with ASD but have not specifically been associated with epilepsy in individuals with ASD. However, children with cerebral folate deficiency (CFD) are commonly diagnosed with epilepsy and/or ASD [58–60].