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Kleefstra syndrome is associated with decreased H9K3 methylation in the brain, which leads to intellectual disability
Researchers at Riken’s pioneering research cluster (CPR) report that Clive Stella syndrome, a genetic disease that causes intellectual disability, can be reversed in a mouse model after birth
Normally, we will get two good copies of most genes, one each from one parent
Considering that additional GLP may be an effective treatment, the researchers conducted a series of experiments on mice designed to have only one intact copy of the EHMT1 gene
Researchers artificially induced the production of GLP after birth in two experiments, one in the entire brain and the other in adult neurons in the brain
The researchers next wanted to know why their treatment was fully effective only when GLP increased in the entire brain and not just in neurons
Since this is the first report of neuroinflammation in Cliff Stella syndrome, the next step is to investigate whether it also occurs in humans
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