The deficiency of asparagine synthetase, which is found in meat, eggs and dairy products, caused by rare genetic disorder affects development of the brain.
Since Asparagine is naturally produced by the body, it was considered non-essential until now.
However, researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital found that the amino acid is essential for normal brain development.
"The cells of the body can do without it because they use asparagine provided through diet but it is not well transported to the brain via the blood-brain barrier," senior co-author of the study Dr. Jacques Michaud said.
In April 2009, a Quebec family experienced the worst tragedy as their 1-year-old son died of a rare genetic disease causing congenital microcephaly, intellectual disability, cerebral atrophy, and refractory seizures.
The most tragic part of the event was that it was their third infant to die in this family from the same disease.
This led Dr. Michaud to discover the genetic abnormality responsible for this developmental disorder.
The team identified the gene affected by the mutation code for asparagine synthetase, the enzyme responsible for synthesizing the amino acid asparagine.
"In healthy subjects, it seems that the level of asparagine synthetase in the brain is sufficient to supply neurons but in individuals having the disability, the enzyme is not produced in sufficient quantity, and the resulting asparagine depletion affects the proliferation and survival of cells during brain development," Michaud said.
The potential solution is that knowledge about gene mutations can be used to develop treatments.
"The results not only open the door to a better understanding of the disease but they also give us valuable information about the molecular mechanisms involved in brain development, which is important for the development of new treatments, Michaud added.
