Scientists in Korea have identified TANC2 as being an important component for neurodevelopment. The deficiency of this protein could even lead to reduced functioning of the brain in areas like learning and memory. They also believe this deficiency can lead to developmental issues including autism spectrum disorders (ASD).
The research was conducted at Institute for Basic Sciences (IBS) and was led by Professor Kim Eun-joon from Synaptic Brain Dysfunctions Lab at the Korea Advanced Institute of Science and Technology (KAIST). The team found that TANC2 functions as a negative regulator of the mechanistic target of rapamycin (mTOR).
Brain development depends on several signaling systems within cells. Signaling between these cells is carried out through the mTOR pathway. While it was known that the pathway is related to developmental disorders, the exact mechanism of mTOR regulation in the nervous system has not been uncovered yet.
The IBS team had earlier confirmed that the TANC2 protein, which is present in the synapses of nerve cells (the junction between nerve cells), is essential for normal brain development. In this study, they found that the TANC2 protein regulates brain development and function by inhibiting the mTOR pathway.
In an experiment on mice, they observed that TANC2 protein deficiency abnormally activated the mTOR signaling protein, resulting in decreased brain functions. When these mice were administered a drug that inhibits mTOR, the brain cognitive functions were restored. Similar observations were made in humans too.
Director Kim Eun-joon said, “Development of mTOR signaling inhibitors can be used in the treatment of autism and brain development disorders caused by TANC2 gene mutations in the future.”