Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease

• Published in: Experimental & molecular medicine 2006, 38(4), , pp.348-356
• Main Authors: 김은영, 홍영빈, 고상희, Beobyi Lee, 정성철
• Format: Article
• Language: Korean
• Subjects: 생화학
• ISSN: 1226-3613; 2092-6413

disease caused by deficiency of glucocerebro-sidase, resulting in the accumulation of glu-cosylceramide in lysosomes. The neuronopathic forms of this disease are associated with neuronal loss and neurodegeneration. However, the patho-physiological mechanisms leading to prenatal and neonatal death remain uncharacterized. To in-vestigate 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. trophic factors could be involved in neuronal loss in Gaucher disease. KCI Citation Count: 10