Aberrations in folate metabolic pathway and altered susceptibility to autism

Naushad, Shaik Mohammad; Jain, Jamal Md Nurul; Chintakindi, Krishna Prasad; Singh, R. P.; Naik, Usha; Akella, Radha Rama Devi

doi:10.1097/ypg.0b013e32832cebd2

Cited by 87 publications

(75 citation statements)

References 27 publications

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“…early paediatric group. Several studies indicate that defects in the folate pathway may play an important role in the pathophysiology of Autism and that MTHFR C677T polymorphism may be an independent risk factor for this neurodevelopmental disorder [23].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of C677T Polymorphism of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in various Neurological Disorders

Divyakolu¹,

Tejaswini²,

Thomas³

et al. 2013

Journal of Neurological Disorders

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Background: Genetic risk factors play an important role in neurological disorders. In this case-control study, we examined the C677T polymorphism (rs1801133) in the Methylenetetrahydrofolate reductase (MTHFR) gene and its association with three neurodegenerative disorders: The late onset pathology, Alzheimer disease and two early onset ones, Autism and Down syndrome. New evidence suggests that autism may be associated with varied behavioural responses to folate therapy and metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesis that, MTHFR C677T mutation may be the underlying common risk factor in various neurological disorders leading to impaired one carbon metabolism resulting in similar and severe neuropsychological symptoms. Hence our objective was to evaluate MTHFR C677T polymorphism in different Neurological disorders and compare it with age-matched healthy controls.Method: This case-control study was carried out on 200 samples which included 100 patients with different neurological disorders and 100 healthy individuals without any neurological problems taken as the control group. MTHFR polymorphism was assessed by PCR-RFLP. Results:Results indicated that the C677T MTHFR polymorphism was not significantly different between controls of younger and older age groups. Among the three neurological disorders studied the T allele was associated with autism (TT+CT vs. CC; OR=4.472, 95% CI: 1.605-12.799, p<0.002), but not with the other two conditions. Conclusion:In conclusion, despite the smaller sample size, the C677T polymorphism of MTHFR plays a role in some complex neurodevelopmental disorders and not in others.

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Section: Introductionmentioning

confidence: 99%

Evaluation of C677T Polymorphism of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in various Neurological Disorders

Divyakolu¹,

Tejaswini²,

Thomas³

et al. 2013

Journal of Neurological Disorders

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“…Our results are consistent with the study of Skibola et al (2002) in reporting protective role of cSHMT C1420T polymorphism against ALL. Earlier studies reported protective role of this polymorphism in breast cancer , coronary artery disease (Vijayalakshmi et al, 2011) and autism (Mohammad et al, 2009). This polymorphism located in exon 13 results in substitution of leucine by phenylalanine at codon 474 and 1420 CC-genotype was reported to be associated with reduced plasma folate and red blood cell folate.…”

Section: Discussionmentioning

confidence: 99%

Association of Thymidylate Synthase 5'-UTR 28bp Tandem Repeat and Serine Hydroxymethyltransfarase C1420T Polymorphisms with Susceptibility to Acute Leukemia

Dunna

Naushad²,

Vuree³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…Mohammad and others (2009) examined the associations between five gene polymorphisms involved in folate pathway including MTR A2756G, MTHFR C677T, MTHFR A1298C, SHMT1 C1420T, MTRR A66G, and the risk of autism in a cohort of autistic children and nonautistic children from the South India. Their studies show that MTR A2756G polymorphism was not associated with an increased risk of autism (Mohammad et al 2009). Some studies showed that polymorphisms are important in different cancers.…”

Section: Discussionmentioning

confidence: 99%

Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran

Haghiri¹,

Mashayekhi²,

Bidabadi³

et al. 2016

Acta Neurobiologiae Experimentalis

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Autism is characterized by impairment in reciprocal communication and speech, repetitive behaviors, and social communication.The genetic and environmental factors play roles in the pathogenesis of autism. It was recently shown that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. One of the genes that may be the risk factor for autism is Methionine synthase (MTR). MTR is responsible for the regeneration of methionine from homocysteine. The aim of this study was to analyze the association of MTR A2756G gene polymorphism (rs1805087) and the risk of autism in a population in northern Iran. The prevalence of MTR A2756G polymorphism was determined in 108 children with autism and 130 controls in northern Iran.Genotypes and allele frequencies were determined in patients and controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The prevalence of genotype frequencies of AA, AG and GG in autistic children were 57.41%, 22.22% and 20.37%, respectively, while in controls were 61.54%, 32.31% and 6.15%, respectively. There was significant difference between the MTR polymorphism distribution in control and patient groups. The prevalence of allele frequencies of A and G in autistic children were 0.69 and 0.31, respectively and in controls were 0.78 and 0.22, respectively (P=0.03). The MTR G allele conferred a 1.6-fold increased risk to autism relative to the A allele (95% CI=1.06-2.41, P=0.02). The present study suggests that the G allele of MTR A2756G polymorphism is associated with an increased risk of autism.

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Aberrations in folate metabolic pathway and altered susceptibility to autism

Abstract: MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism. MTHFR A1298C acts additively in increasing the risk for autism.

Cited by 87 publications

References 27 publications

Evaluation of C677T Polymorphism of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in various Neurological Disorders

Evaluation of C677T Polymorphism of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in various Neurological Disorders

Association of Thymidylate Synthase 5'-UTR 28bp Tandem Repeat and Serine Hydroxymethyltransfarase C1420T Polymorphisms with Susceptibility to Acute Leukemia

Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran

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