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Autophagy-Related Gene 7 Polymorphisms and Cerebral Palsy in Chinese Infants

Lei Xia1, Jianhua Xu2, Juan Song1

  • 1Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Frontiers in Cellular Neuroscience
|November 22, 2019
PubMed

Insights

Genetic variants in the autophagy-related gene 7 (ATG7) are associated with cerebral palsy (CP) in Chinese children. This study highlights ATG7

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Cerebral palsy (CP) is a non-progressive motor disorder resulting from early brain injury.
  • Genetic factors are increasingly recognized as contributors to CP etiology.
  • Autophagy, regulated by the autophagy-related gene 7 (ATG7), plays a critical role in brain development.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the ATG7 gene and CP in Han Chinese children.
  • To explore the relationship between ATG7 gene variants and CP susceptibility.
  • To examine the role of ATG7 in the molecular mechanisms of CP.

Main Methods:

  • Genotyping of six ATG7 SNPs (rs346078, rs1470612, rs11706903, rs2606750, rs2594972, rs4684787) in 715 CP patients and 658 controls using MassArray.
  • Measurement of plasma ATG7 protein levels in CP patients and healthy controls.
  • Luciferase reporter gene assay to assess the functional impact of ATG7 SNPs on gene expression.

Main Results:

  • Significant differences in allele and genotype frequencies for rs1470612 and rs2594972 were observed between CP patients and controls.
  • Subgroup analyses revealed stronger associations of rs1470612 and rs2594972 with male CP and spastic diplegia.
  • Plasma ATG7 levels were elevated in CP patients, and the T allele of rs2594972 enhanced ATG7 promoter activity.

Conclusions:

  • Genetic variations in the ATG7 gene are associated with an increased susceptibility to cerebral palsy in the Han Chinese population.
  • These findings provide novel evidence for ATG7's role in CP pathogenesis.
  • This study contributes to understanding the molecular underpinnings of this neurodevelopmental disorder.

Keywords:
ATG7autophagycerebral palsyluciferase reporter genesingle nucleotide polymorphisms

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