Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy

Brenda Polster, Moira Crosier, Susan Lindsay, Susan Hayflick

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Mutations in PLA2G6, which encodes calcium-independent phospholipase A2 group VIA (iPLA2-VIA), underlie the autosomal recessive disorder infantile neuroaxonal dystrophy (INAD). INAD typically presents in the first year of life, and leads to optic atrophy and psychomotor regression. We have examined PLA2G6 expression in early human embryonic development by in situ hybridization. At Carnegie Stage (CS) 19 (approximately 7 post-conception weeks [PCW]), strong expression is evident in the ventricular zone (VZ) of midbrain and forebrain suggestive of expression in neural stem and progenitor cells. At CS23 (8PCW) expression is also detectable in the VZ of the hindbrain and the subventricular zone (SVZ) of the developing neocortex, ganglionic eminences and diencephalon. By 9PCW strong expression in the post-mitotic cells of the cortical plate can be seen in the developing neocortex. In the eye, expression is seen in the lens and retina at all stages examined. PLA2G6 expression is also evident in the alar plate of the spinal cord, dorsal root ganglia, the retina and lens in the eye and several non-neuronal tissues, including developing bones, lung, kidney and gut. These findings suggest a role for PLA2G6 in neuronal proliferation throughout the developing brain and in maturing neurons in the cortical plate and hindbrain. Although widespread PLA2G6 expression is detected in neuronal tissues, the pattern shows dynamic changes with time and indicates that INAD pathogenesis may begin prior to birth.

Original languageEnglish (US)
Pages (from-to)374-379
Number of pages6
JournalBrain Research Bulletin
Volume83
Issue number6
DOIs
StatePublished - Nov 20 2010

Keywords

  • Development
  • INAD
  • In situ hybridization
  • Neurodegeneration
  • PLA2G6

ASJC Scopus subject areas

  • Neuroscience(all)

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