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

Lookup NU author(s): Moira Crosier, Emerita Professor Susan Lindsay


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Mutations in PLA2G6 which encodes calcium-Independent phospholipase A(2) group VIA (iPIA2-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 (8 PCW) expression is also detectable in the VZ of the hindbrain and the subventricular zone (SVZ) of the developing neocortex ganglionic eminences and diencephalon By 9 PCW 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 (C) 2010 Elsevier Inc All rights reserved

Publication metadata

Author(s): Polster B, Crosier M, Lindsay S, Hayflick S

Publication type: Article

Publication status: Published

Journal: Brain Research Bulletin

Year: 2010

Volume: 83

Issue: 6

Pages: 374-379

Print publication date: 31/08/2010

ISSN (print): 0361-9230

ISSN (electronic): 1873-2747

Publisher: Elsevier Inc.


DOI: 10.1016/j.brainresbull.2010.08.011


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