AANS Neurosurgeon | Volume 27, Number 3, 2018

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Lafora Disease Research Benefits From the Overlap Between Plant and Human Biology

Minireview published in the Journal of Biological Chemistry

 

In a paper, a University of Kentucky scientist noted for his research into the molecular overlap between plant and human biology provided a thematic minireview on Lafora disease (LD) and the “unique window into glycogen metabolism that LD research offers.”

Lafora disease is an ultra-rare, congenital form of epilepsy; every patient diagnosed with it dies before they are 30.  The disease is caused by a mutation in one of two genes that control the way cells store glycogen —  a carbohydrate that cells convert to energy. According to Gentry, glycogen is essential to living as gasoline is to driving a car, and for reasons being defined by Gentry and his colleagues, glycogen deposits in patients with Lafora disease looks more like the plant version than human glycogen, which causes rapid neurodegeneration in the brain and an untimely death.

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