Could studying rare Parkinson’s mutation help treat other cases?

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Image credit: Atilla Barabas

A handful of gene mutations are linked to inherited PD, but they account for less than 15 percent of the one million U.S. cases and the five million worldwide. The most common of these is a mutated version of leucine-rich repeat kinase 2 (LRRK2).

LRRK2 has drawn the interest of pharmaceutical companies because it is an accessible drug target. The gene encodes a namesake protein that functions as a type of enzyme called a kinase. The LRRK2 protein attaches chemical tags called phosphates to other proteins. Like a molecular switch, these phosphate tags activate or silence LRRK2’s targets.

[However, the] LRRK2 protein, which helps break down large molecules in the cell, might also play a role in nongenetic forms of the disease. A study published July 25 in Science Translational Medicine suggests LRRK2 might indeed be a culprit in a much broader population of PD patients.

Related article:  Artificial intelligence could have a future diagnosing sick children, study says

The findings suggest many paths could lead to LRRK2 overactivity and subsequently to PD pathology. The implication: a drug roadblock of LRRK2 might halt progression of PD in people with and without the mutation.

Instead of developing a drug for perhaps 5 percent of the PD patient population, [Todd Sherer] says, “these data suggesting that LRRK2 plays a role in perhaps the other 95 percent…could mean a broader impact across the board.”

Read full, original post: Parkinson’s Drugs Aimed at Rare Gene Mutation Show Promise for Other Sufferers, Too

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