Invention:
This invention relates to TAF1-ID animal model and new use for SAK3 which was first developed as a T-type voltage gated Ca2+ channel enhancer for treating TAF1 intellectually disability (TAF1 ID) syndrome, an x-linked disorder caused by loss-of-function mutations in the TAF1 gene.
Background:
TATA-box binding protein associated factor 1 (TAF1) plays a critical role in transcription initiation. TAF1 intellectual disability (ID) syndrome is an x-linked genetic syndrome in males caused by mutations in the TAF1 gene which result in developmental delay, intellectual disability, facial dysmorphology, hypotonia, motor deficits and autistic like behaviors. Reliable animal models to study this disorder remain to be developed to better understand TAF1-ID syndrome and develop efficacious treatments. SAK3, an enhancer of T-type calcium channels has been previously explored for its applications in treating Alzheimer’s disease and depression. SAK3 is believed to stimulate the release of acetylcholine, dopamine and serotonin, among others in the hippocampus. This technology includes both a new animal model for studying TAF1-ID syndrome as well as new potential applications of SAK3 as a therapeutic agent for TAF1-ID syndrome.
Applications:
- Drug development
- In vivo animal validation studies
- Therapeutic treatment
- Rare genetic disease
Advantages:
- Efficacious
- Reduced behavioral abnormalities
- Neuroprotective
- Meets unmet medical needs
