Researchers have found a rare genetic mutation that protects against Alzheimer’s disease (AD) and general cognitive decline associated with aging.
The study, published in the journal Nature, found that the mutation limits brain accumulation of plaques of a protein called beta-amyloid that may contribute to AD. The newly discovered mutation “confers a very, very strong protection against the disease,” study author Kari Stefansson told National Public Radio. People who had the mutation produced about 40 percent less of the proteins that develop into these plaques, he said. Previously, genetic studies had found only mutations that increased a person's chance of getting Alzheimer's due to higher levels of beta-amyloid production in the brain.
What’s most intriguing, NPR reports, is that the mechanism at work in the mutation mirrors a therapeutic approach to AD that had come into question among researchers. For the first time, scientists have genetic evidence that reducing beta-amyloid plaques is protective against AD. It’s good news for drug companies developing drugs that do this, called BACE1 inhibitors.
Researchers have yet to make a similar genetic discovery to support a specific therapeutic approach for preventing Parkinson’s disease (PD), where the alpha-synuclein protein similarly forms clumps in the brains of affected individuals.
Still, it is possible to think about how a comparable genetic finding in PD could provide positive news for Parkinson’s drug developers, and it surrounds a different genetic target implicated in PD altogether, LRRK2. Here’s what would be, in theory, analogous: If science could locate a rare mutation that both reduces the kinase activity of the gene LRRK2, (LRRK2 functions as a kinase, an enzyme that modifies the function of proteins; kinases are highly druggable targets) and which also proves to be protective against Parkinson’s. If this were the case, then we’d have potential evidence that developing drugs called kinase inhibitors would be an effective way to treat PD.
We’re not there yet, but MJFF continues to support research to learn more about how both LRRK2 and alpha-synuclein function in the bodies of people with PD.