The PINK1 gene carries the instructions your cells need to make a mitochondrial protein called
Without this protection, damaged cells can lead to damaged neurons. And damaged neurons can lead to Parkinson’s and other neurological conditions.
The PINK1 gene runs in families and is associated with early-onset Parkinson’s. The discovery of this gene and of the pathogenic mutations of it that can lead to Parkinson’s are some of the discoveries that are driving the research and testing of new Parkinson’s treatment options.
Keep reading to learn more about the PINK1 gene and how it may contribute to Parkinson’s.
The PINK1 gene contains the instructions that tell your body how to make a protein called PTEN induced putative kinase 1. The protein is located in the mitochondria of your cells throughout your body. Mitochondria are what your cells use to produce the energy they need to function.
You have the most cells with the PTEN induced putative kinase 1 protein in your muscles, heart, and testicles.
Scientists still don’t fully understand the function of the PTEN protein, but they believe that it protects your mitochondria when your cells are under stress. They also believe that mutations to the PINK1 gene could result in a loss of this protection.
Mutations on the PINK1 gene are rare, but they’re genetic and
New research is looking into the connection between the PINK1 gene and Parkinson’s.
Researchers are looking into two regions of the PTEN protein and examining how these regions work within the mitochondria of the cells. It’s thought that PINK1 works together with another gene called PARKIN to keep the mitochondria in neurons working correctly.
PINK1 and PARKIN appear to act as quality control. They send signals that enable cells to destroy damaged mitochondria.
When this doesn’t happen, damaged mitochondria can reproduce, and unhealthy cell function can continue to occur. As a result, mitochondria in these regions don’t produce energy correctly. This is known to lead to Parkinson’s and other brain function conditions.
There are more than 50 known pathogenic mutations that can occur on the PINK1 gene, and that can lead to Parkinson’s.
Pathogenic mutations on the PINK1 gene are associated with early-onset Parkinson’s. People who inherit this gene mutation are more likely to develop Parkinson’s before age 45 than people without genetic forms of Parkinson’s.
PINK1 mutations can be passed down in families. About 1 to 8 percent of all people with familial, or early onset, Parkinson’s have a mutation on the PINK1 gene.
The discovery of the PINK1 gene is leading to new therapeutic approaches for treating Parkinson’s. For example, there are several medications in development that hope to target the PINK1/PARKIN pathway and the mitochondrial dysfunction that leads to Parkinson’s.
Targeted medications
Targeted medications are still in clinical trials, and it’s not yet known what the most effective medications will be.
Researchers are still trying to determine the exact right place in the mitochondrial energy process to target and are trying to develop medications that will not cause side effects for people with Parkinson’s.
Gene-edited cell therapy treatment
Researchers have been studying gene therapies for Parkinson’s in clinical trials since the 2000s.
In 2021, the first-ever gene-edited cell therapy treatment for Parkinson’s entered a phase 1 clinical trial with approval from the Food and Drug Administration (FDA). The trial will test the safety of using stem cells called MSK-DA01 in people with Parkinson’s.
Additional studies are being done to study the possible effects of using gene therapy along with treatments for people with Parkinson’s.
New treatments to come
None of these new treatments are available yet, but discoveries like the PINK1 gene have led to the development of many treatments that might be options in the very near future.
Researchers today understand more about Parkinson’s than ever before, and it’s likely that new therapeutic approaches will follow this new knowledge. The standards for Parkinson’s treatment might look very different 10 years from now than the standards we have today.
The PINK1 gene is a gene that tells your body how to make an important mitochondrial protein. Researchers believe that when this protein isn’t built correctly, the cells in your heart, muscles, and testicles lack protection from stress and infection.
It’s known that without the energy from correctly working mitochondria, you can develop Parkinson’s and other neurological conditions. The PINK1 gene is associated with early-onset Parkinson’s.
Mutations on this gene are rare, but researchers have found over 50 possible pathogenic mutations. PINK1 mutations have been found to run in families.
Discoveries like the PINK1 mutation are helping medical researchers find new therapeutic approaches and treatment options for Parkinson’s.