title: Circulating miRNAs profiles in Tourette syndrome: molecular data and clinical implications.
abstract: BACKGROUND
  Tourette Syndrome (TS) is a highly prevalent childhood neuropsychiatric disorder (about 1 %), characterized by multiple motor and one or more vocal tics. The syndrome is commonly associated to comorbid conditions (e.g., Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder), which considerably aggravate clinical symptoms and complicate diagnosis and treatment. To date, TS molecular bases are unknown and its molecular diagnosis is unfeasible.
  
  
  RESULTS
  Due to their master role within cell networks and pathways both in physiology as in pathology, we sought to determine the transcriptome of circulating miRNAs in TS patients: by TaqMan Low Density Arrays, we profiled the expression in serum of 754 miRNAs in six TS patients and three unaffected controls (NCs) (discovery set). These data were validated by single TaqMan assays on serum from 52 TS patients and 15 NCs (validation set). Network and Gene-ontology analysis were performed by using Cytoscape and Babelomics server. We found that miR-429 is significantly underexpressed in TS patients with respect to NCs. Decreased serum levels of miR-429 allowed us to discriminate TS patients from NCs with 95 % of sensitivity and 42 % of specificity. Intriguingly, computational analysis of the network comprising miR-429 targets demonstrates their involvement in differentiation of midbrain and hindbrain and synaptic transmission.
  
  
  CONCLUSIONS
  Our data open the way to further molecular characterization of TS and eventual identification of the corresponding genotypes. Circulating miR-429 may be immediately useful as sensitive molecular biomarker to support TS diagnosis, actually based only on DSM-V criteria.
authors.affiliation: Section of Child Neurology and Psychiatry, Department of Experimental and Clinical Medicine, University of Catania, Catania, EU, Italy.
authors.forename: Renata
authors.initials: R
authors.lastname: Rizzo
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Ragusa
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Barbagallo
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Mariangela
authors.initials: M
authors.lastname: Sammito
authors.affiliation: Section of Child Neurology and Psychiatry, Department of Experimental and Clinical Medicine, University of Catania, Catania, EU, Italy.
authors.forename: Mariangela
authors.initials: M
authors.lastname: Gulisano
authors.affiliation: Section of Child Neurology and Psychiatry, Department of Experimental and Clinical Medicine, University of Catania, Catania, EU, Italy.
authors.forename: Paola V
authors.initials: PV
authors.lastname: Calì
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Pappalardo
authors.affiliation: Department of Medical and Surgical Sciences and Advanced Technologies GF Ingrassia, University of Catania, Catania, EU, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Barchitta
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Mariagrazia
authors.initials: M
authors.lastname: Granata
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Angelo G
authors.initials: AG
authors.lastname: Condorelli
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Barbagallo
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Scalia
authors.affiliation: Department of Medical and Surgical Sciences and Advanced Technologies GF Ingrassia, University of Catania, Catania, EU, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Agodi
authors.affiliation: BioMolecular, Genome and Complex Systems BioMedicine Unit (BMGS), Section of Biology and Genetics G Sichel, Department of BioMedicine and BioTechnology, University of Catania, Catania, EU, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Di Pietro
authors.affiliation: Section of Child Neurology and Psychiatry, Department of Experimental and Clinical Medicine, University of Catania, Catania, EU, Italy. purrello@unict.it.|, Via S Sofia 87, Building C, 2° floor, room 10, 95123, Catania, EU, Italy. purrello@unict.it.
authors.forename: Michele
authors.initials: M
authors.lastname: Purrello
mesh_terms: D002648:Child; D003710:Demography; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D053263:Gene Regulatory Networks; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000097:blood* / Q000235:genetics*; D012372:ROC Curve; D015203:Reproducibility of Results; D005879:Tourette Syndrome / Q000097:blood* / Q000235:genetics* / Q000523:psychology
chemical_list: D035683:MicroRNAs