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17 April 2014 12:48 pm ,
Vol. 344 ,
Officials last week revealed that the U.S. contribution to ITER could cost $3.9 billion by 2034—roughly four times the...
An experimental hepatitis B drug that looked safe in animal trials tragically killed five of 15 patients in 1993. Now,...
Using the two high-quality genomes that exist for Neandertals and Denisovans, researchers find clues to gene activity...
A new report from the Intergovernmental Panel on Climate Change (IPCC) concludes that humanity has done little to slow...
Astronomers have discovered an Earth-sized planet in the habitable zone of a red dwarf—a star cooler than the sun—500...
Three years ago, Jennifer Francis of Rutgers University proposed that a warming Arctic was altering the behavior of the...
- 17 April 2014 12:48 pm , Vol. 344 , #6181
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Jumbo Gene Offers Clue to Parkinson's
8 April 1998 6:00 pm
Scientists have discovered a massive gene that, when mutated, causes a rare condition similar to Parkinson's disease. Although the finding--reported in tomorrow's issue of Nature--won't resolve a long-running debate over whether a genetic flaw or some environmental insult is the primary culprit behind most Parkinson's cases, neurobiologists hope that it will offer a glimpse at the shadowy players involved in the molecular wreckage of a patient's brain.
To hunt down the new gene, a team led by Nobuyoshi Shimizu of Keio University School of Medicine, and Yoshikuni Mizuno of Juntendo University School of Medicine, both in Tokyo, focused on a small group of Japanese families afflicted with a rare disease called autosomal recessive juvenile parkinsonism (AR-JP), the symptoms of which sometimes start developing in teenagers. In contrast, people with common nonhereditary Parkinson's show symptoms after age 40. Knowing that the AR-JP gene lay somewhere on chromosome 6, the researchers used positional cloning--a technique in which ever-finer maps of inherited mutations narrow a gene's possible location--to nab the gene, which they've dubbed parkin.
The team soon discovered that the Parkin protein is "one of the most unique proteins ever known," says Shimizu. One portion resembles ubiquitin, a protein that, like Charon--the mythical boatman of the river Styx--ferries defective or spent proteins to proteosomes that chop them up. Defects in Parkin's ubiquitin-like section may subvert protein degradation and lead to toxic protein buildup. Parkin also has a zinc finger, a motif often found in proteins that help regulate gene expression.
"This research is very important," says Robert Nussbaum of the National Human Genome Research Institute in Bethesda, Maryland, "because we'll want to see if a deficiency of Parkin might be occurring in nonhereditary Parkinson's disease as well," perhaps as a secondary effect of underlying disease processes. Indeed, says Shimizu, in nonhereditary Parkinson's, "some environmental factor may be altering the form of Parkin over time."