Gene Tied to Down Syndrome May Suggest Way to New Therapy

by Nicole Ostrow from Bloomberg:
Scientists have identified a gene on the extra chromosome causing Down syndrome that may be responsible for the early aging and cognitive defects in people with the condition, a finding that could lead to new treatments.
The gene, called Usp16, may hinder the body’s ability to make stem cells needed to maintain tissues and organs, according to research published today in the journal Nature. That includes development of organs such as the brain while in the uterus, said Michael Clarke, a senior study author.
The findings in mice and human cells are the first to help explain why people with Down syndrome show signs of early Alzheimer’s disease and age faster, the authors said. Further investigation may test whether the gene might slow down these aging effects or fight against other diseases like Alzheimer’s and cancer, Clarke said.
“Like most regulators and stem cell functions, understanding how those things work has potential implications in a wide range of diseases,” Clarke, a professor of medicine at Stanford University near Palo Alto, California, said in a telephone interview. “Now that we have a pathway, there might be drugs that could be used to improve some of the problems.”

Down Syndrome Treatment Study Shows Experimental Drug Reverses Cognitive Deficits In Mice

 by David Freeman from the Huffington Post:
There's still no cure for Down syndrome, but recent research is raising hopes that drugs can be found to counter the cognitive deficit that characterizes the genetic disorder.
In July, University of Massachusetts researchers said they had found a way to shut down the extra chromosome that causes the syndrome, at least in test tubes. And now comes word that scientists have identified a compound that brings dramatic improvements in learning and memory in mice bred to have a Down-like condition. One injection of the compound given on the day of birth seemed to work by allowing the animals' cerebellums to grow to full size.
"Most people with Down syndrome have a cerebellum that's about 60 percent of the normal size," Dr. Roger H. Reeves, a professor at Johns Hopkins University and one of the scientists behind the research, said in a written statement. "We treated the Down syndrome-like mice with a compound we thought might normalize the cerebellum's growth, and it worked beautifully... We were able to completely normalize growth of the cerebellum through adulthood with that single injection."

Drug may reverse Down syndrome symptoms

from mother nature network:

 

Dr. Alberto Costa has a personal stake in his Down syndrome research: his daughter, Tyche.

 

Costa's life and work changed direction after she was born 16 years ago and Costa — a physician and neuroscientist — decided to dedicate his career to the study of Down syndrome.In the past decade and a half, Costa's research has focused on normalizing the brain cells in the hippocampus, the portion of the brain responsible for memory and spatial navigation.

 

In 2006, Costa published a study that found that a drug — the antidepressant Prozac — could normalize the cells in this area of the brain. But it was still unclear whether or not these normalized cells would automatically translate to better memory and improve cognitive deficits.

 

The next year, Costa worked with Down syndrome mice and found that the Alzheimer’s drug memantine could improve their memory. Costa's study showed that a single injection of memantine produced benefits within minutes, enabling Down-equivalent mice to learn as well as standard mice.

 

Costa's theory is that memantine works not by increasing or changing brain cells, but by normalizing how they work. People with Down syndrome have three copies of all or most of the genes on Chromosome 21 instead of just two, so receptors in this area of the brain tend to be hyperactive — overreacting to stimuli and making it difficult for the brain to focus and learn.

 

Memantine, according to Costa's hypothesis, quiets the noise, allowing the brain cells to react normally. Costa's journey was the focus of a feature story in this Sunday's New York Times Magazine.

 

Now Costa is working on the first randomized clinical trial to use the drug in humans. For Costa's trail, he is testing memory and spatial learning in 40 young adults with Down syndrome who have received memantine pills daily for 16 weeks. Costa will present preliminary results of this research at a scientific meeting in Illinois this fall. If successful, memantine could provide a new future for Costa's daughter Tyche and the 400,000 other people living with Down syndrome in the U.S.