Urinary polyomavirus infections in neurodevelopmental disorders

Ivan Gentile,Giuseppe Portella,Elisa Santocchi,Carla Lintas,Marina Gandione,Paolo Curatolo,Roberto Sacco,Roberto Rigardetto,Laura Altieri,Guglielmo Borgia,Arianna Benvenuto,Raffaella Faggioli,Filippo Muratori,Antonio M Persico,Carmela Bravaccio,Emanuela Zappulo,Carlo Lenti

doi:10.4236/ojpsych.2013.32a004

Abstract

We have recently reported enhanced frequencies of polyomavirus infection in post-mortem brain tissue of autistic patients compared to controls. To further explore potential contributions to neurodevelopmental disorders by polyomaviruses, we have employed specie-specific TaqMan assays to assess the prevalence and titres of BKV, JCV and SV40 inthe urines of 87 patients with autism spectrum disorder, 84 controls matched by sex and age with the autistic sample, 15 subjects with Down syndrome and 13 fragile X individuals. Prevalence rates of urinary BKV infection were significantly greater in Down syndrome and fragile X patients compared to autistic and control individuals (P

Highlights

Down syndrome (DS), fragile X syndrome (FXS) and autism spectrum disorder (ASD) represent three common developmental disorders encompassing abnormalities primarily affecting the central nervous system (CNS)
DS and FXS individuals display greater-than-double prevalence rates of urinary BKV infection compared to ASD and controls, as BKV is present in 8/15 (53.5%) DS and 8/13 (61.5%) FXS individuals vs 21/84 (25%) controls and 16/87 (18.4%) ASD patients (Χ2 = 16.718, 3 df, P = 0.001)
Urinary BKV titres, measured by specie-specific TaqMan assay in 15 ASD, 8 FXS, 8 DS, and 17 controls positive for this virus are significantly different among the four diagnostic groups (K-W Χ2 = 11.60, 3 df, P = 0.009)

Summary

Introduction

Down syndrome (DS), fragile X syndrome (FXS) and autism spectrum disorder (ASD) represent three common developmental disorders encompassing abnormalities primarily affecting the central nervous system (CNS). The disease is associated with mental retardation, congenital cardiac defects, autoimmune disorders (celiac disease, hypothyroidism, type I diabetes mellitus), immunodeficiency with increased incidence of bacterial and viral infections, and early onset Alzheimer’s disease [3,4,5,6]. Both genome-wide and chromosome 21-targetted expression studies have unveiled the consistent over-expression of only approximately 25% - 30% of trisomic genes, in addition to 3% - 6% of loci distributed on each of the remaining chromosomes [7,8]. DS patients display prominent interindividual variability in clinical phenotype and disease severity, with approximately 8% showing severe autistic behaviours [9]

Methods

Results

Conclusion