Asparagine synthetase deficiency is a relatively newly identified disease that joins the family of diseases that are referred to as inborn errors of metabolism.
This disease results from a defect in an enzyme within cells that synthesizes the amino acid asparagine.
Unfortunately, the development of the brain early in utero is dependent on asparagine.
And so, the lack of asparagine synthetase within the brain, even during the fetal growth period, damages the brain in terms of full development.
Our laboratory's contribution to this emerging field has been to utilize cells from the patients and the patients' family members, and understand why deficiency in this particular enzyme does not allow the brain cells to develop and grow normally.
So for this paper, we set out to just characterize this disease and really just to get the knowledge out there about ASD.
For me, the most interesting aspect of this paper was actually the 3D model that we made, as well as how we characterized the mutations and where that fit into that model.
So, we do not know the structure of the human asparagine synthetase protein.
But we were able to use the protein that's expressed in e coli as a template to develop the structure for the human asparagine synthetase.
There is no simple test for ASD.
And so, each one of these children who have been identified to have this disease have been identified through DNA sequencing.
And so, in the future, one of the goals would also be to develop a test for this disease and possibly an in utero test to identify the disease as early as possible in the child's development.