|Protein Implicated in Parkinson’s Disease|
By Nancy Touchette
Posted: April 16, 2004
Nicholas Wood of the Institute of Neurology in London and his collaborators found two different mutations in the gene among three families with a history of a severe, early-onset form of Parkinson’s disease. The findings are reported today in Science.
The finding suggests that the mutations may disrupt mitochondria, tiny organelles that produce most of the energy for the cell, thereby contributing to at least some forms of the disease.
Some studies have suggested that toxins and other stresses on cells damage mitochondria and may lead to the destruction of neurons that produce the brain chemical dopamine. It is the loss of dopamine in certain regions of the brain that causes most of the debilitating effects of this disease, including tremors, rigidity, and loss of balance and muscle coordination.
The new finding was surprising, because the newly identified gene is of a type known as a kinase. Genes in this family are thought to play a role in many cancers.
“We never would have thought this gene would be involved in Parkinson’s,” says Wood. “Not much is known about this particular gene, but kinases are a big deal in cancer.”
Wood speculates that the PINK1 protein may activate other proteins that protect mitochondria from stress. However, he doesn’t know which proteins might be involved.
“I have a wish list of things I would love to know about this protein,” says Wood. “What are its targets in the cell? What is it doing in mitochondria? How will it fit into mitochondrial biology?”
Wood notes that another protein called alpha-synuclein is implicated in Parkinson’s. This protein forms clumps in the brain, a process that can be triggered by malfunctioning mitochondria.
“It’s tantalizing to imagine how this all might fit together,” says Wood. “But right now it’s just speculation. It’s too early to tell what’s going on.”