Researchers from the University of Montreal have discovered that the amino acid asparagine is essential for healthy brain development in children. They have also discovered that while other organs in the body can draw asparagine from dietary sources, the brain needs the local synthesis of the amino acid to function properly.
Senior co-author of the study Dr. Jacques Michaud explains:
"The cells of the body can do without it because they use asparagine provided through diet. Asparagine, however, is not well transported to the brain via the blood-brain barrier."
Dr. Michaud and his colleagues linked a specific gene variant with a deficiency of the enzyme, asparagine synthetase, which is responsible for synthesizing the amino acid asparagine.
This extremely rare genetic disease causes a variety of symptoms, including intellectual disability, refractory seizures and cerebral atrophy, which can lead to death.
Dr. Michaud continues:
"In healthy subjects, it seems that the level of asparagine synthetase in the brain is sufficient to supply neurons. In individuals with 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."
Understanding how the brain develops
However, children who are carriers of this mutation suffer to varying degrees. One family in Quebec has lost three infants below the age of 1 year to the disease, while two other siblings are alive and healthy.
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