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Genes encoding catalytic subunits of protein kinase A and risk of spina bifida

Huiping Zhu1, Wei Lu, Cecile Laurent

  • 1Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas.

Birth Defects Research. Part A, Clinical and Molecular Teratology
|August 5, 2005
PubMed

Insights

This study investigated sequence variations in PRKACA and PRKACB genes, which encode protein kinase A (PKA) catalytic subunits, and their association with spina bifida risk. No strong link was found between common PKA single-nucleotide polymorphisms (SNPs) and spina bifida.

Area of Science:

  • Genetics and Developmental Biology
  • Molecular Biology
  • Human Genetics

Background:

  • Protein Kinase A (PKA) subunits alpha (PRKACA) and beta (PRKACB) are crucial for embryonic development.
  • PKA regulates the Hedgehog (Hh) signaling pathway, essential for morphogenesis.
  • PKA-deficient mice exhibit 100% penetrance of spina bifida, suggesting a link between PKA activity and neural tube defects (NTDs).

Purpose of the Study:

  • To investigate whether sequence variations in human PRKACA and PRKACB genes alter PKA activity and increase spina bifida risk.
  • To examine the association between common single-nucleotide polymorphisms (SNPs) in these genes and spina bifida.

Main Methods:

  • Sequencing of coding regions and exon/intron boundaries of PRKACA and PRKACB.
  • Genotyping of three common single-nucleotide polymorphisms (SNPs) in PRKACA and PRKACB using allele discrimination.

Main Results:

  • Five coding and two intronic sequence variants in PRKACA/PRKACB were identified.
  • No significant association was found between the examined PKA SNPs and an increased risk of spina bifida.

Conclusions:

  • The study did not establish a strong association between the investigated PKA SNPs and spina bifida.
  • Future research should explore gene-gene interactions, including those involving PRKACA, PRKACB, PKA regulatory subunits, and the Sonic Hedgehog (SHH) pathway, for NTD risk assessment.
Abstract

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