A new study funded by the Jerome Lejeune Foundation calls into question the role of GABA in intellectual disability in Down syndrome.

Earlier in this newsletter we described GABA as one of the targets for researchers to improve cognition in individuals with Down syndrome. GABA has is an inhibitory neurotransmitter, that has been thought by researchers to be excessively inhibitory in individuals with Down syndrome. Recent research funded by the Jerome Lejeune Foundation and published in the journal Nature Medicine has raised questions regarding that hypothesis and suggested that it may, in fact, work in the opposite way. It may be excitatory. (Read a slightly-less-technical summary of the paper here)

What does this mean for people living with Down syndrome? Well, potentially a lot! In the first place, it could have a considerable impact on the kinds of drugs being investigated that are targeting the GABA system.

Another finding of the research team in Genoa is the most significant for people living with Down syndrome. They discovered that the use of a drug already approved by the FDA called bumetanide that was effective in improving neurological activity, synaptic plasticity, and some types of memory in mouse models of Down syndrome. If that result could be translated safely into humans, the benefit could be considerable.

Of course, this research will need to be verified in other studies, and it will be interesting to see the results of drugs already in clinical trial whose purpose is to suppress GABA. If they are proven to be effective, then there will be many more questions about the role of GABA and future research into potential treatments.