Related Experiment Video

Updated: Dec 31, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

2.5K

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

Mohammad Taheri1, Rezvan Noroozi2, Kamyar Aghaei3

  • 1Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Metabolic Brain Disease
|January 5, 2020
PubMed

Insights

Genetic variations in the Molybdenum Cofactor Sulfurase (MOCOS) gene are linked to autism spectrum disorder (ASD). The rs594445 SNP is identified as a potential risk factor for ASD in the Iranian population.

Area of Science:

  • Genetics
  • Neuroscience
  • Metabolic Disorders

Background:

  • The Molybdenum Cofactor Sulfurase (MOCOS) gene plays a role in purine metabolism.
  • Previous research indicated MOCOS down-regulation in individuals with autism spectrum disorder (ASD).

Purpose of the Study:

  • To investigate the association between MOCOS gene polymorphisms and ASD risk.
  • To evaluate two specific single nucleotide polymorphisms (SNPs), rs594445 and rs1057251, in the MOCOS gene.

Main Methods:

  • Genotyping of 406 ASD patients and 411 controls for MOCOS SNPs rs594445 and rs1057251.
  • Statistical analysis using various inheritance models (co-dominant, recessive) and haplotype analysis.
  • Linkage disequilibrium (LD) analysis between the two SNPs.

Main Results:

  • The A allele of rs594445 was significantly more prevalent in ASD cases (OR = 1.33).
  • This SNP showed association with ASD risk in co-dominant and recessive models (P < 0.05).
  • The CT haplotype (rs594445 and rs1057251) demonstrated a protective effect against ASD (OR = 0.76, P = 0.02).

Conclusions:

  • The rs594445 SNP in the MOCOS gene may represent a risk locus for ASD.
  • These findings suggest a potential genetic link between MOCOS variations and ASD in the Iranian population.
  • Further research is warranted to elucidate the functional impact of these genetic associations.
Keywords:
Autism spectrum disorderMOCOSMolybdenum cofactor sulfurasers1057251rs594445

More Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

374
Strategies for Assessing Autistic-Like Behaviors in Mice07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

2.1K

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
844
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.1K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
6.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.8K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K