Related Experiment Video

Updated: Jul 15, 2026

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Aberrant amino acid transport in fibroblasts from children with autism

Elisabeth Fernell1, Aristea Karagiannakis, Gunnar Edman

  • 1Department of Neuropaediatrics, Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE 171 76 Stockholm, Sweden.

Neuroscience Letters
|April 7, 2007
PubMed

Insights

Children with autism show altered amino acid transport, specifically increased alanine transport and decreased tyrosine affinity. These findings suggest potential impacts on nutrient transport across the blood-brain barrier in autism spectrum disorder.

Area of Science:

  • Neurodevelopmental Disorders
  • Biochemistry
  • Cell Biology

Background:

  • Autism Spectrum Disorder (ASD) is a complex developmental disorder impacting social interaction, communication, and behavior.
  • Understanding the underlying biological mechanisms of ASD is crucial for developing effective interventions.
  • Amino acid transport plays a vital role in brain function and development.

Purpose of the Study:

  • To investigate potential abnormalities in the transport of the amino acids tyrosine and alanine in children diagnosed with autism.
  • To determine if specific amino acid transport systems are affected in individuals with ASD.

Main Methods:

  • Skin biopsies were collected from 11 children with autism and 11 healthy controls.
  • Fibroblast cell cultures were established from the biopsies.
  • Amino acid transport (tyrosine and alanine) across the cell membrane was analyzed using the cluster tray method.
  • Kinetic parameters, including maximal transport capacity (Vmax) and affinity constant (Km), were determined.

Main Results:

  • Children with autism exhibited a significantly increased maximal transport capacity (Vmax) for alanine (p=0.014).
  • A significant increase in the affinity constant (Km) for tyrosine transport was observed in children with autism (p=0.007).
  • These results indicate altered function in major amino acid transport systems (L- and A-systems) in ASD.

Conclusions:

  • The study suggests that altered transport of alanine and tyrosine is associated with autism in children.
  • These transport abnormalities may impact the transport of other amino acids across the blood-brain barrier.
  • Further research is needed to explore the full implications of these findings for ASD pathogenesis and treatment.

More Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...