[Neurosciences/BBB/ASD] Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Very interesting study that came out, maybe the first study that directly link the blood-brain barrier dysfunction to a certain form of autism spectrum disorder (at least in a rodent model).
In this study, Tarlungeanu and colleagues identified the solute carrier SLC7A5, encoding for the large aminoacid transporter-1 (LAT1) as the causative agent. LAT1 usually transport branched aminoacids (BCAA) like valine, leucine and isoleucine inside the brain.
The first piece of interesting data is the aminoacid temporal profile compared to wt mice at different developmental stages (embryonic vs. postnatal versus adulthood. BCAA levels went down, but surprisingly phenylalanine and histidine levels went up.
SLC7A5 KO mice had a neurological signature similar to other autism models. They also validated their findings by whole-genome sequencing genes from patients (from Lybia and Turkey) from co-sanguine marriages displaying various neurological disorders and identified two key mutations impairing SLC7A5 activity.
You can find more about this study by clicking to the source: Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder