University of Montreal researchers have concluded that the amino acid asparagine is necessary for brain development during childhood. Information that also enlightened the researchers included that the while body can utilize asparagines through diet (such as meats, since protein foods provide asparagine and 21 other amino acids), the brain must obtain it through local synthesis to remain healthy and for proper functioning.

The Medical News Today (MNT) reports on Dr. Jacques Michaud, Senior co-author of the study, said that although asparagine can be gotten through diet, it “is not well transported to the brain via the blood-brain barrier.” What Dr. Michaud and the other researchers discovered is that the deficiency of an enzyme, asparagine synthetase, is linked with a variant of a specific gene that is needed to synthesize the asaparagine amino acid.

Children with rare disease need asparagine

The issue with this specific gene is the root cause of this very rare genetic disease. Symptoms of the disease include disabilities in intellect, refractory seizures, as well as cerebral atrophy, which can eventually cause death.

Dr. Michaud says that healthy children and adults have levels of asparagine synthetase in the brain that supply adequate neurons for proper functioning; however, 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.”

Children who have the genetic mutation can manifest symptoms that vary, including severity of the disease. It was reported by MNT that a family in Quebec, Canada lost three babies to the disease (all under 1-year of age) but had two living siblings who were healthy.

Dr. Michaud hopes that the study can help with the development of treatments for the disease. Infants who are born with the genetic disease could potentially be given asparagines supplements to ensure asparagine levels in the brain are high enough for healthy brain development. However, Dr. Michaud also warns that “The amount of supplementation remains to be determined, as well as its effectiveness … it is uncertain whether this supplementation would correct the neurological deficits.”

So far nine children from four separate families have the mutation (three from Quebec, three from a Bengali family in Toronto plus three Israeli children) although their symptoms are not as acute. Others are surely yet to be identified for the condition.

Dr. Michaud does not think children are out of the woods yet; he says, “We are not at the verge of a miracle drug, but we at least know where to look.”