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Keywords:

  • Tourette syndrome;
  • gene expression;
  • quantitative real-time PCR;
  • biomarker;
  • the amyloid precursor protein-binding protein A2 gene

Abstract

To evaluate whether gene expression in chromosome 15q13–q22.3 region is responsible for the development of Tourette syndrome (TS). Eighty-four unrelated Chinese Han patients with TS (male/female = 68/16; mean age 9.92 ± 3.98 years) and 100 sex, age, and ethnicity matched normal controls (male/female = 80/20; mean age 10.90 ± 5.86 years) were enrolled in this study. We performed quantitative real-time PCR on a subset of seven genes: the L-histidine decarboxylase gene (HDC), the HECT domain and RCC-1 like domain 1 gene (HERC1), the HECT domain and RCC-1 like domain 2 gene (HERC2), the cholinergic receptor, neuronal nicotinic alpha polypeptide 7 gene (CHRNA7), the ubiquitin protein ligase E3A gene (UBE3A), the ubiquitin specific peptidase 3 gene (USP3) and the amyloid precursor protein-binding protein A2 gene (APBA2) previously reported to be stably expressed in brain tissue. A significant difference was shown for the APBA2 gene expression of peripheral lymphocytes between Chinese Han TS group and healthy controls (relative expression: 0.21 ± 0.16-fold decrease in patients versus normal, P < 0.01). Indicating that the APBA2 gene is a promising peripheral blood biomarker that discriminates between patients with TS and healthy subjects. Further studies into this gene and its protein products may provide insights into the pathogenesis of TS. © 2012 Wiley Periodicals, Inc.