Genetics and Parkinson’s – PRKN and PINK1 Genes

Learning about genetic risk factors for Parkinson’s can help scientists learn what goes wrong in the disease — even among those without those risk factors — and how they might fix it. Thanks to this strategy, treatments are now in clinical trials for changes linked to the SNCALRRK2 and GBA genes. Close on their heels are strategies against two other genes: PRKN and PINK1.

Taking the Cellular Garbage Out

Mutations in the PRKN and PINK1genes are rare — seen in fewer than one percent of people with Parkinson’s — but are more common in young-onset disease (before age 50). Approximately five to 10 percent of young-onset cases are linked to these mutations, which can cause loss of parkin and PINK1 protein activity. 

Each cell keeps itself healthy by getting rid of damaged or excess cell parts. This process involves many players and steps, much like taking out the trash at your house. Someone may remind you that it’s trash day, so you collect the bags from around the house and then carry them to the curb.

In our cells, PINK1 essentially acts as the reminder and parkin starts the trash collection. The parkin protein tags damaged or excess cell parts such as proteins and mitochondria (the cell’s energy powerhouses) for degradation, like when you put something in the garbage bin. PINK1 tells parkin to start tagging mitochondria.

While scientists don’t know exactly how parkin and PINK1 problems lead to Parkinson’s disease, they can make an educated guess about the basic problem. Research has shown mitochondrial dysfunction may play a role in the cell death that causes Parkinson’s symptoms and progression. If parkin and PINK1 aren’t functioning well, mitochondria may not either.

People without PRKN or PINK1 mutations may still have lower levels of these proteins due to other causes, such as cellular stress, which means therapies to correct their function may help a broader population than only mutation carriers.

Given their possible key role in disease and treatment, parkin and PINK1 are a research priority 

Article Source:  The Michael J. Fox Foundation for Parkinson’s research