The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder

AbstractMolybdenum cofactor sulfurase (MOCOS) gene encodes an enzyme which is involved in purine metabolism. Recent experiments have shown down-regulation of MOCOS in adult nasal olfactory stem cells of individuals with autism spectrum disorder (ASD). In the current study, we genotyped two single nucleotide polymorphisms (SNPs) within coding regions ofMOCOS gene (rs594445 and rs1057251) in 406 ASD patients and 411 age and sex-matched controls. The A allele of the rs594445 SNP was more prevalent among ASD cases compared with controls (OR (95% CI)  = 1.33 (1.07–1.64), adjustedP value  = 0.02). This SNP was associated with risk of ASD in co-dominant (AA vs. CC: OR (95% CI) = 2.00 (1.22–3.23), adjustedP value  = 0.04) and recessive (AA vs. CC + AC: OR (95% CI) = 1.86 (1.16–2.98), adjusted P value = 0.02) models. The other SNP was not associated with risk of ASD in any inheritance model. There was no LD between rs594445 and rs1057251 SNPs (D’ = 0.03, r2 = 0.14). The C T haplotype (rs594445 and rs1057251, respectively) had a protective role against ASD (OR (95% CI) = 0.76 (0.62–0.92), adjustedP value  = 0.02). Other estimated haplotypes distributed equally between cases and controls. Based on the results of current study, the rs594445 SNP might be regarded as a risk locus for ASD in Iranian population.
Source: Metabolic Brain Disease - Category: Neurology Source Type: research

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Neurodevelopmental disorders (NDDs) are multifaceted pathologic conditions manifested with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or genetic/chromosomal abnormalities. They are associated with skewed neurogenesis and brain development, in part through dysfunction of the neural stem cells (NSCs) where abnormal transcriptional regulation on key genes play significant roles. Recent accumulated evidence highlights C2H2-type zinc finger proteins (C2H2-ZNFs), the largest transcription factor family in humans, as important targets for the pathologic processes associated with NDDs....
Source: Frontiers in Neurology - Category: Neurology Source Type: research
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Source: Cell Reports - Category: Cytology Source Type: research
A UCLA-led study reveals a new role for a gene that ’s associated with autism spectrum disorder, intellectual disability and language impairment.The gene, Foxp1, has previously been studied for its function in the neurons of the developing brain. But the new study reveals that it ’s also important in a group of brain stem cells — the precursors to mature neurons.“This discovery really broadens the scope of where we think Foxp1 is important,” said Bennett Novitch, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA and the senior author ...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
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Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Review Source Type: research
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Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Contributor : Meiyan WangSeries Type : OtherOrganism : Homo sapiensThe association between macrocephaly and autism spectrum disorder (ASD)suggests that the mechanisms underlying excessive neural growth could contribute to ASD pathogenesis. Consistently, neural progenitor cells (NPCs) derived from induced pluripotent stem cells (iPSCs) of ASD individuals with early developmental brain enlargement are inherently more proliferative than control NPCs. Here, we show that hiPSC-derived NPCs from ASD individuals with macrocephaly display an altered DNA replication program and increased DNA damage. When compared to the control NPC...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
Contributor : Meiyan WangSeries Type : OtherOrganism : Homo sapiensThe association between macrocephaly and autism spectrum disorder (ASD)suggests that the mechanisms underlying excessive neural growth could contribute to ASD pathogenesis. Consistently, neural progenitor cells (NPCs) derived from induced pluripotent stem cells (iPSCs) of ASD individuals with early developmental brain enlargement are inherently more proliferative than control NPCs. Here, we show that hiPSC-derived NPCs from ASD individuals with macrocephaly display an altered DNA replication program and increased DNA damage. When compared to the control NPC...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
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Source: Molecular Autism - Category: Molecular Biology Source Type: research
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Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Tags: 419 Source Type: research
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Source: Molecular Autism - Category: Molecular Biology Source Type: research
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