Experimental compound reverses down syndrome-like learning deficits in mice


 Researchers at Johns Hopkins and the National Institutes of Health have identified a compound that dramatically bolsters learning and memory when given to mice with a Down syndrome-like condition on the day of birth. As they report in the Sept. 4 issue of Science Translational Medicine, the single-dose treatment appears to enable the cerebellum of the rodents' brains to grow to a normal size.

The scientists caution that use of the compound, a small molecule known as a sonic hedgehog pathway agonist, has not been proven safe to try in people with Down syndrome, but say their experiments hold promise for developing drugs like it.

"Most people with Down syndrome have a cerebellum that's about 60 percent of the normal size," says Roger Reeves, Ph.D., a professor in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine. "We treated the Down syndrome-like mice with a compound we thought might normalize the cerebellum's growth, and it worked beautifully. What we didn't expect were the effects on learning and memory, which are generally controlled by the hippocampus, not the cerebellum."

Reeves has devoted his career to studying Down syndrome, a condition that occurs when people have three, rather than the usual two, copies of chromosome 21. As a result of this "trisomy," people with Down syndrome have extra copies of the more than 300 genes housed on that chromosome, which leads to intellectual disabilities, distinctive facial features and sometimes heart problems and other health effects. Since the condition involves so many genes, developing treatments for it is a formidable challenge, Reeves says.

Written By: Science Daily
continue to source article at sciencedaily.com


  1. 31 years ago my daughter was born in Japan with 21 trisomy downs. It was staggeringly hard to swallow. She also had a heart defect and we brought her back to the UK to be operated on by Leon Abrams who was at the time probably the world’s finest paediatric heart surgeon. We had to work like demons to educate her even making apparatus to help her learn to walk and as the years rolled by lost count of the hours spent helping her to learn. She still lives and leads a useful and meaningful life she is literate and numerate, uses her own computer, handles her own money, buys her own clothes, feeds herself, plays the piano and works part time. I can’t express how tough it was and I can’t tell you what I would’ve given for something like this that would have helped provide her with an edge.

    There is nothing to help us other than ourselves, bugger praying just bring on the science.

  2. This is pretty awesome stuff, I never would have expected Down’s to be mitigated by a protein (even one with such a cool name) unless it was a regulatory protein that could selectively incapacitate one of the three copies of #21….. I would have anticipated some type of gene therapy to be the route for “fixing” this issue. Bravo! Bravo!!

  3. Attitudes towards Downs are quite strange.

    Downs can be prevented by checking the chromosomes of a fetus and aborting those who have an extra one. Many people are opposed to this.

    A Downs child is usually cheerful, obedient and never grows up. Parents of Downs children sometimes don’t want them treated in any way. They don’t want a cure found. They see Downs children as a precious endangered species.

    Some parents of Downs children continue to have children, knowing perfectly well the risk of another Down’s child. They are selfish, thinking of their pleasure as parents, not the severely restricted lives of the child and the cruel discrimination.

    Sometimes a Downs child cannot talk, has secondary disabilities and cannot keep their tongue in their mouth. This leads to a painful rash. These children often end up in an institution.

    I once volunteered to teach mentally disabled children who could not speak to swim. It required every drop of my patience. Progress was glacially slow without being able to even explain the goal. One boy with cerebral palsy suddenly started to make progress once he caught on to the idea was to swim to the edge of the pool. I remember one Downs girl. She was so far gone she could not communicate in any way other than to express fear of the water. It was as though none of us existed for her. From where I stood, her existence was a nightmare.

    Some parents are treating their children as pets.

    Of course most parents want the best for their Downs children and would do anything to let them have a full and normal life.

  4. To know what it is like you have to have experienced it.

    Some parents do have unusually dark views on their down’s children and some can’t come to terms with it.

    There is a broad range of disability associated with down’s some are profoundly disabled and some are not. In some ways I was lucky my daughter had a DQ of around 80% which puts her at the low end of ‘normal’ cognitive development.

    The risk of having another down’s child in the case of 21 trisomy is not much worse than the rest of the population and so if you have more children their is a very slight increase in risk only. Translocation down’s is hereditary and those parents should not have more children. We didn’t we concentrated on educating the one we had.

    Down’s kids are fabulous. They are cheerful and extra sociable and I agree some parents think that is nice. It was nice for me but I still strove to give her the best start I could and that meant education.

    BTW she’s an atheist!

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