Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):345-6. doi: 10.1007/s10545-006-0271-6.

Abstract

In the study reported, we prove that mutations in the SLC6A8 gene are responsible for SLC6A8 deficiency, a cerebral creatine deficiency syndrome (CCDS), since overexpression of the wild-type SLC6A8 open reading frame (ORF) restores the creatine uptake profile in SLC6A8-deficient fibroblasts.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Transport Disorders, Inborn / genetics
  • Amino Acid Transport Disorders, Inborn / metabolism*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / metabolism*
  • Cells, Cultured
  • Creatine / metabolism*
  • Fibroblasts / drug effects
  • Fibroblasts / metabolism*
  • Guanidines / pharmacology
  • Humans
  • Mutation
  • Nerve Tissue Proteins / antagonists & inhibitors
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Open Reading Frames / genetics
  • Plasma Membrane Neurotransmitter Transport Proteins / antagonists & inhibitors
  • Plasma Membrane Neurotransmitter Transport Proteins / deficiency
  • Plasma Membrane Neurotransmitter Transport Proteins / genetics
  • Plasma Membrane Neurotransmitter Transport Proteins / metabolism*
  • Propionates / pharmacology
  • Transfection

Substances

  • Guanidines
  • Nerve Tissue Proteins
  • Plasma Membrane Neurotransmitter Transport Proteins
  • Propionates
  • SLC6A8 protein, human
  • Creatine
  • guanidinopropionic acid