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Figure: In this graph, the red line represents the enzyme activity of the P212L mutant protein over time, while the blue line represents the activity
A new study reveals how a rare genetic mutation can lead to intellectual disability
About 1% of the world's population suffers from intellectual disabilities
The P212L mutation is very rare, but a patient was found in Japan who subsequently participated in a study
Since our eyes cannot directly see this level of response, it must be monitored
This new method allows the research team to quickly and accurately analyze nearly a hundred cell extracts and study their biological activity
The team hopes its research will help determine treatment options for
"To date, there are no effective drugs to treat children
Looking ahead, Fujii said: "Mutations in CaMKIIalpha are already associated with other neurodevelopmental disorders, so by applying this FRET-based kinase phenotype platform, we may be able to elucidate the development and treatment strategies
Article title
F?rster resonance energy transfer-based kinase mutation phenotyping reveals an aberrant facilitation of Ca2+/calmodulin-dependent CaMKIIa activity in de novo mutations related to intellectual disability
