Multiple genes are responsible for the problems associated with Down syndrome, British researchers reported last night.
A research team based at University College London, UK, investigated a number of regions of chromosome 21. People with Down syndrome have an extra copy of this chromosome.
The new work, published in Cell Reports yesterday (28 January), used tests on mice to identify new specific regions of chromosome 21, which cause memory and decision-making problems in the animals.
They say that this finding “provides valuable new insight into the condition in humans”.
Professor Matthew Walker and colleagues explain that in mice, the genes on chromosome 21 have dispersed onto three smaller regions on three different chromosomes.
Groups of mice were genetically modified to carry an extra copy of one of the gene groups on these three chromosomes and were tested in a maze for memory and decision-making ability, while their brain regions were monitored.
Memory, decision-making ability, and brain signalling were worse in one of the three groups.
Professor Walker says: “These findings are a complete surprise. Scientists have traditionally worked on the hypothesis that a single gene, or single genes, was the likely cause of intellectual disabilities associated with Down syndrome.
“We have shown – for the first time – that different and multiple genes are contributing to the various cognitive problems associated with Down syndrome.”
Co-author Professor Elizabeth Fisher adds: “This implies that therapies for people with Down syndrome should perhaps target multiple processes, and we have made the initial steps in identifying what some of these processes are.”
Chang, P. et al. Altered Hippocampal-Prefrontal Neural Dynamics in Mouse Models of Down Syndrome. Cell Reports 28 January 2020; doi: 10.1101/644849
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