Genetic Origins Parkinsons

February 9, 2012 by staff

Genetic Origins Parkinsons, Researchers have discovered how mutations in the parkin gene lead to the incurable Parkinson’s disease. The University of Buffalo findings reveal potential new drug targets for the disease as well as a screening platform for discovering new treatments that might mimic the protective functions of parkin. UB has applied for patent protection on the screening platform.

“This is the first time that human dopamine neurons have ever been generated from Parkinson’s disease patients with parkin mutations,” said Jian Feng, PhD, professor of physiology and biophysics in the UB School of Medicine and Biomedical Sciences and the study’s lead author.

Since in 2007, when Japanese researchers announced they had converted human cells to induced pluripotent stem cells (iPSCs) that could then be converted to nearly any cells in the body, mimicking embryonic stem cells, Feng and his UB colleagues saw their enormous potential. They have been working on it ever since.

“This new technology was a game-changer for Parkinson’s disease and for other neurological diseases,” said Feng.

“It finally allowed us to obtain the material we needed to study this disease.”

The current paper is the fruition of the UB team’s ability to “reverse engineer” human neurons from human skin cells taken from four subjects: two with a rare type of Parkinson’s disease in which the parkin mutation is the cause of their disease and two healthy subjects who served as controls.

“Once parkin is mutated, it can no longer precisely control the action of dopamine, which supports the neural computation required for our movement,” asserted Feng.

The UB team also found that parkin mutations prevent it from tightly controlling the production of monoamine oxidase (MAO), which catalyses dopamine oxidation.

“Normally, parkin makes sure that MAO, which can be toxic, is expressed at a very low level so that dopamine oxidation is under control,” Feng explained.