Abstract
Gaucher disease is a glycosphingolipid storage disease caused by deficiency of glucocerebrosidase, resulting in the accumulation of glucosylceramide in lysosomes. The neuronopathic forms of this disease are associated with neuronal loss and neurodegeneration. However, the pathophysiological mechanisms leading to prenatal and neonatal death remain uncharacterized. To investigate brain dysfunction in Gaucher disease, we studied the effects of neurotrophic factors during development in a mouse model of Gaucher disease. The expression of brain-derived neurotrophic factor and nerve growth factor was reduced in the cerebral cortex, brainstem, and cerebellum of Gaucher mice, compared with that in wild-type mice. Extracellular signal-regulated kinase (ERK) 1/2 expression was downregulated in neurons from Gaucher mice and correlated with a decreased number of neurons. These results suggest that a reduction in neurotrophic factors could be involved in neuronal loss in Gaucher disease.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
About this article
Cite this article
Kim, E., Hong, Y., Go, S. et al. Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease: implications for neuronal loss in Gaucher disease. Exp Mol Med 38, 348–356 (2006). https://doi.org/10.1038/emm.2006.41
Published:
Issue Date:
DOI: https://doi.org/10.1038/emm.2006.41
Keywords
This article is cited by
-
Reduced Cerebellar BDNF Availability Affects Postnatal Differentiation and Maturation of Granule Cells in a Mouse Model of Cholesterol Dyshomeostasis
Molecular Neurobiology (2023)
-
An Evaluation of the Effects of Acute and Chronic l-Tyrosine Administration on BDNF Levels and bdnf mRNA Expression in the Rat Brain
Molecular Neurobiology (2014)
-
Nicotine Inhibits bFGF-induced Neurite Outgrowth through Suppression of NO Synthesis in H19-7 Cells
Neurochemical Research (2007)