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Impaired Amino Acid Transport at the Blood Brain Barrier is a Cause of Autism Spectrum Disorder

The article shows that the solute carrier transporter 7a5, a big neutral amino acid transporter located at the blood brain barrier, is in charge of maintaining normal levels of brain BCAAs. For example, in mice, elimination of Slc7a5 from the endothelial cells of the BBB leads to an uncommon brain amino acid profile, severe neurological abnormalities, and abnormal mRNA translation. In addition, the author identified many patients with autistic characteristics and motor delay carrying deleterious homozygous changes in the SLC7A5 gene. At last the author shows that BCAA intracerebroventricular administration repairs abnormal behaviors in older mutant mice. The data reveals a neurological syndrome defined by SLC7A5 mutations and uphold a vital role for the BCAA in human brain function.

No One Should Feel Forced To Live A Lifetime With Autism 

Are You Satisfied with Only Treating Autistic Symptoms?

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What Causes Autism: Chromosomal Mutation or Nondisjunction?

According to a study, X chromosome is theorized to lead to the genetic disorder defined as severe autism. Opposed to the usual cases of autism, syndromic forms of the disorder are brought about by mutations in single chromosomal regions. Some of these genes are on the X chromosome like MecP2. Mutations in two different X chromosome genes, NLGN3 and NLGN4X, are linked with autism. These mutations occurring in genes could shed light on the growing rate of autism in male children. No One Should Feel Forced To Live A Lifetime With Autism  Are You Satisfied with Only Treating Autistic Symptoms?