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Down syndrome traced to one gene

Impairments in signaling and transport of neurotrophins, not a lack of the brain chemicals, could underlie neurodegerative diseases

Chandra Shekhar
Down syndrome and other neurodegenerative diseases may be caused by impairments in signaling and transport of neurotrophins, according to two studies released this week in Neuron, challenging the hypothesis that an inadequate supply of these essential brain chemicals is to blame. And for Down syndrome, a condition in which several hundred genes are triplicated due to a trisomy of chromosome 21, one gene associated with Alzheimer's disease may be the chief culprit."You can stop thinking of Down syndrome as this murky area where you'll never discover specific genes that make a difference," said William Mobley of Stanford University, the senior author of the study that focused on Down syndrome.In the study, Mobley and his team, including co-authors Ahmad Salehi and Jean-Dominique Delcroix, linked a brain abnormality found in Down syndrome to the gene for amyloid precursor protein (APP), a protein associated with brain plaques in Alzheimer's disease....

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