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Title: Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development
Authors: Cromphout, Kathy ×
Keldermans, L
Snellinx, An
Collet, J F
Grünewald, S
De Geest, N
Sciot, Raphael
Vanschaftingen, E
Jaeken, Jacques
Matthijs, Gert
Hartmann, Dieter #
Issue Date: Aug-2005
Publisher: Published on behalf of the European Neuroscience Association by Oxford University Press
Series Title: European Journal of Neuroscience vol:22 issue:4 pages:991-996
Abstract: The most common type of the congenital disorders of glycosylation, CDG-Ia, is caused by mutations in the human PMM2 gene, reducing phosphomannomutase (PMM) activity. The PMM2 mutations mainly lead to neurological symptoms, while other tissues are only variably affected. Another phosphomannomutase, PMM1, is present at high levels in the brain. This raises the question why PMM1 does not compensate for the reduced PMM2 activity during CDG-Ia pathogenesis. We compared the expression profile of the murine Pmm1 and Pmm2 mRNA and protein in prenatal and postnatal mouse brain at the histological level. We observed a considerable expression of both Pmms in different regions of the embryonic and adult mouse brain. Surprisingly, the expression patterns were largely overlapping. This data indicates that expression differences on the cellular and tissue level are an unlikely explanation for the absence of functional compensation. These results suggest that Pmm1 in vivo does not exert the phosphomannomutase-like activity seen in biochemical assays, but either acts on as yet unidentified specific substrates or fulfils entirely different functions.
ISSN: 0953-816X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Translational Cell & Tissue Research
Section Child - Miscellaneous (-)
Clinical Genetics Section (-)
Molecular Genetics Section (-)
× corresponding author
# (joint) last author

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