A study on the PINK1 gene, associated with Parkinson’s disease, was recently published.
The research, detailing the structure and activation of the PINK1 gene, appeared in the prestigious journal Science.
Parkinson’s disease, a neurological disorder that affects motor function, impacts approximately 10 million people worldwide.
The exact cause of Parkinson’s disease remains unidentified, but it is understood that environmental and genetic factors interactively influence its development. In particular, experts speculate that mutations in the PINK1 gene may increase the risk of developing Parkinson’s disease.
The protein expressed by the PINK1 gene is known to protect mitochondria and assist in their removal when they become damaged over time. If damaged mitochondria are not removed, they can release toxins that lead to cell death.
The researchers noted that studying PINK1 is challenging because there is a limited amount of PINK1 within the cells.
They explained that they visualized sufficient human PINK1 using a large number of cells, equivalent to about 10 liters, which they then visualized through electron microscopy.
Specifically, PINK1 detects mitochondrial damage, attaches to the damaged mitochondria, and tags them with ubiquitin. This ubiquitin is connected to a protein called Parkin, which helps remove the damaged mitochondria.
The researchers emphasized that the lack of structural knowledge about PINK1 had previously hindered efforts to design drugs to enhance its activity. With this new insight, they believe they have established a crucial blueprint for future research and potential therapeutic developments.
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