What is mTOR?
MTOR is a protein kinase, and it regulates a variety of important cell functions by passing on signals through a complicated network of signaling pathways. It’s in every cell of most animals, yeast to human, and regulates how a cell cleans up, grows, multiples, and gets energy for example.
Both too much mTOR and too little mTOR are not good. Any imbalance in mTOR activity level or any imbalance within its network of signaling pathways causes ripple effects and affect various cell functions. The imbalance can be caused by gene mutation, disease, diet, vitamins, or medicines.
When one of an mTOR gene variety is mutated, it gets overactivated and creates more than enough number of mTOR protein kinase. (There are a few cases under-activation.)
One mTOR protein kinase binds with other things to create either kind of the 2 mTOR complexes, mTORC1 and mTORC2. MTORC1 is relatively well studied than mTORC2, but both have different functions, and both also affect each other in the network of signaling pathways.
When there are two many of both mTORC1 and mTORC2, it’s like each cell keeps buying new things without recycling or throwing away old things, and it results in too many of too big brain cells, for example.
A different variety of mTOR mutation seems to cause a different activation level of mTORC1 and mTORC2.
My goal is to find a way to achieve a good balance of mTOR activities and a good balance between mTORC1 and mTORC2, especially in important cells such as brain cells.
Until someday, when a gene therapy becomes available, I think that the balancing task addressing multiple signaling pathways is required with any good medicines, although we are fortunate to have options of medicines.
Smith Kingsmore Syndrome and MINDS are relatively new to science, and there is a huge gap between past mTOR studies and clinical application and treatment options.
Clinical studies are limited, and MTOR still has many mysteries, but mTOR have been well studied in various medical and research fields.
Some are studied only in test tubes, some are studied in yeast, worms, and fish, but it’s also well studied in human, especially in oncology, Alzheimer, mitochondria dysfunction, TSC, and other mTOR-related patients.
I’d also like to seek collaboration of different medical and research fields and find biomarkers that leads to more treatment options.