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Circulating miRNAs profiles in tourette syndrome: molecular data and clinical implications.

Rizzo R, Ragusa M, Barbagallo C, Sammito M, Gulisano M, Calì PV, Pappalardo C, Barchitta M, Granata M, Condorelli AG, Barbagallo D, Scalia M, Agodi A, Di Pietro C, Purrello M - Mol Brain (2015)

Bottom Line: We found that miR-429 is significantly underexpressed in TS patients with respect to NCs.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.

View Article: PubMed Central - PubMed

Affiliation: Section of Child Neurology and Psychiatry, Department of Experimental and Clinical Medicine, University of Catania, Catania, EU, Italy.

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.

No MeSH data available.


Related in: MedlinePlus

Correlation between miR-429 expression and clinical parameters. Box plots describing the expression of miR-429 in TS patients separated in comorbidity groups and NCs. y-axis represents the –ΔCt of miRNA. P-values for t-test are reported above the boxes
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Fig3: Correlation between miR-429 expression and clinical parameters. Box plots describing the expression of miR-429 in TS patients separated in comorbidity groups and NCs. y-axis represents the –ΔCt of miRNA. P-values for t-test are reported above the boxes

Mentions: To evaluate whether expression changes of miR-429 were associated with the clinical and pathologic characteristics observed in patients, its expression levels were compared to different parameters including C-YBOCS, YGTSS, Conner’s ADHD. However, we found only a weak positive correlation between Conner’s ADHD and miR-429 expression (Pearson = 0.28; pvalue = 0.03), while there were no significant associations among miRNAs expression and C-YBOCS and YGTSS scores. Next, we assigned the expression levels of miR-429 to comorbidity groups: (TS + OCD: 20 patients), (TS + ADHD: 13 patients), (TS + ADHD + OCD: 16 patients). We compared the expression of miR-429 among different comorbidity groups and patients with no comorbidity (Fig. 3). We found no statistically significant difference of expression among these groups, although patients with TS+ADHD+OCD showed a downregulation of miR-429 slightly more pronounced than other groups.Fig. 3


Circulating miRNAs profiles in tourette syndrome: molecular data and clinical implications.

Rizzo R, Ragusa M, Barbagallo C, Sammito M, Gulisano M, Calì PV, Pappalardo C, Barchitta M, Granata M, Condorelli AG, Barbagallo D, Scalia M, Agodi A, Di Pietro C, Purrello M - Mol Brain (2015)

Correlation between miR-429 expression and clinical parameters. Box plots describing the expression of miR-429 in TS patients separated in comorbidity groups and NCs. y-axis represents the –ΔCt of miRNA. P-values for t-test are reported above the boxes
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4513635&req=5

Fig3: Correlation between miR-429 expression and clinical parameters. Box plots describing the expression of miR-429 in TS patients separated in comorbidity groups and NCs. y-axis represents the –ΔCt of miRNA. P-values for t-test are reported above the boxes
Mentions: To evaluate whether expression changes of miR-429 were associated with the clinical and pathologic characteristics observed in patients, its expression levels were compared to different parameters including C-YBOCS, YGTSS, Conner’s ADHD. However, we found only a weak positive correlation between Conner’s ADHD and miR-429 expression (Pearson = 0.28; pvalue = 0.03), while there were no significant associations among miRNAs expression and C-YBOCS and YGTSS scores. Next, we assigned the expression levels of miR-429 to comorbidity groups: (TS + OCD: 20 patients), (TS + ADHD: 13 patients), (TS + ADHD + OCD: 16 patients). We compared the expression of miR-429 among different comorbidity groups and patients with no comorbidity (Fig. 3). We found no statistically significant difference of expression among these groups, although patients with TS+ADHD+OCD showed a downregulation of miR-429 slightly more pronounced than other groups.Fig. 3

Bottom Line: We found that miR-429 is significantly underexpressed in TS patients with respect to NCs.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.

View Article: PubMed Central - PubMed

Affiliation: Section of Child Neurology and Psychiatry, Department of Experimental and Clinical Medicine, University of Catania, Catania, EU, Italy.

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.

No MeSH data available.


Related in: MedlinePlus