Fly mutation suggests link to human brain disease

Greater insight into human brain disease may emerge from studies of a new genetic mutation that causes adult fruit flies to develop symptoms akin to Alzheimer's disease.

"This is the first fruit fly mutant to show some of the outward, physical manifestations common to certain major human neurodegenerative diseases," said principal investigator Michael McKeown, a biology professor at Brown University.

A research team found the mutation in a gene they named "blue cheese." Reporting in the Feb. 15 issue of the Journal of Neuroscience, the researchers describe blue cheese mutations that lead normal-appearing adult flies (genus Drosophila) to die early from extensive cell death in the brain, neural degeneration, and build-up of protein aggregates.

"These aggregates contain the Drosophila version of proteins that are the major components of plaques that form in the brains of human Alzheimer's patients," said the study's lead author, biologist Kim D. Finley, of the Salk Institute for Biological Studies. "The presence of these proteins in human plaques is at times used as a diagnostic tool for Alzheimer's disease."

Genes first identified in Drosophila are often named for a mutant characteristic, said Finley. "The first obvious feature that we noted in older mutant flies was the slow accumulation of dark protein aggregates throughout the brain," she said. "This reminded us of moldy versions of marbled and veined cheeses, thus the name blue cheese."

The protein encoded by blue cheese also identifies a new family of proteins present in humans and other vertebrates, as well as in flies, said McKeown. "Our work on blue cheese not only identifies a gene needed for adult neural survival, it also allows identification of the members of this new family," he said.

Similar blue cheese genes are found in species ranging from worms to humans. The protein encoded by blue cheese the "blue cheese protein" may be involved in transport or deg

Contact: Scott Turner
Brown University

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