title: Aberrant amino acid transport in fibroblasts from children with autism.
abstract: Autism is a developmental, cognitive disorder clinically characterized by impaired social interaction, communication and restricted behaviours. The present study was designed to explore whether an abnormality in transport of tyrosine and/or alanine is present in children with autism. Skin biopsies were obtained from 11 children with autism (9 boys and 2 girls) fulfilling the DSM-IV diagnostic criteria for autistic disorder and 11 healthy male control children. Transport of amino acids tyrosine and alanine across the cell membrane of cultured fibroblasts was studied by the cluster tray method. The maximal transport capacity, V(max) and the affinity constant of the amino acid binding sites, K(m), were determined. Significantly increased V(max) for alanine (p=0.014) and increased K(m) for tyrosine (p=0.007) were found in children with autism. The increased transport capacity of alanine across the cell membrane and decreased affinity for transport sites of tyrosine indicates the involvement of two major amino acid transport systems (L- and A-system) in children with autism. This may influence the transport of several other amino acids across the blood-brain-barrier. The significance of the findings has to be further explored.
authors.affiliation: Department of Neuropaediatrics, Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE 171 76 Stockholm, Sweden.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Fernell
authors.forename: Aristea
authors.initials: A
authors.lastname: Karagiannakis
authors.forename: Gunnar
authors.initials: G
authors.lastname: Edman
authors.forename: Lars
authors.initials: L
authors.lastname: Bjerkenstedt
authors.forename: Frits-Axel
authors.initials: FA
authors.lastname: Wiesel
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Venizelos
mesh_terms: D000409:Alanine / Q000378:metabolism*; D001321:Autistic Disorder / Q000378:metabolism* / Q000473:pathology; D001692:Biological Transport; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D008297:Male; D012867:Skin / Q000166:cytology / Q000473:pathology; D014443:Tyrosine / Q000378:metabolism*
chemical_list: D014443:Tyrosine; D000409:Alanine