Newswise — LEXINGTON, Ky. (May 24, 2018) -- In a paper recently published in the Journal of Biological Chemistry, 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.
"To continue the car analogy, it would be like putting regular gasoline in a car that runs on diesel fuel," Gentry said. "The car engine would blow its pistons and completely break down."
Gentry and his colleagues in Texas, Indiana, Canada and Spain have applied their complementary yet unique areas of expertise to define the cellular problems in LD and identified therapies to treat the disease. The group is now moving forward with pre-clinical trials for at least four non-overlapping therapeutic options.
At first glance it might seem unusual for the National Institutes of Health to award Gentry an $8.5 million, five year grant to study an ultra-rare disease. However, Gentry's research is uncovering an emerging link between glycogen metabolism and epilepsy. This link portends the targeting of key cellular processes as a basis for treatment for more common forms of epilepsy and, indeed, potentially other metabolic diseases.
To date, this research has yielded a number of techniques and models allowing researchers to further explore the mysteries of glycogen metabolism and identify potential treatments, which Gentry hopes might be ready for human clinical trials within a few years.