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Gene transfer of brain derived neurotrophic factor (BDNF) prevents neurodegeneration triggered by frataxin deficiency

This study is an investigation of the effect of gene transfer of brain-derived neurotrophic factor (BDNF) on Friedreich's Ataxia neurons and in a mouse model of Friedreich's Ataxia. Gene transfer of BDNF to primary cultures of mouse neurons prevented cell death triggered by the knockdown of frataxin. The injection of a vector carrying a gene encoding for a frataxin-specific shRNA into the mouse cerebellar cortex triggered a frataxin deficit, which is accompanied by significant death of specific cell types. These pathological changes were accompanied by a loss of motor coordination of mice. Co-injection of the vector encoding for BDNF prevented both the development of ataxia and the pathologies that could be seen in certain areas of the brain. These data demonstrate the potential for neurotrophins like BDNF to protect frataxin-deficient neurons from degeneration.

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Jen Farmer

Jen Farmer

Executive Director

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