Autism: Where Genetics Meets the Immune System
1Laboratory of Molecular Psychiatry & Neurogenetics, University Campus Bio-Medico of Rome, Via Alvaro del Portillo 21, 00128 Rome, Italy
2Department of Neurology, The Johns Hopkins Hospital, Pathology Building, Room 627, 600 N. Wolfe Street, Baltimore, MD 21287, USA
3Division of Rheumatology/Allergy and Clinical Immunology, UC Davis, 451 Health Science Drive, Suite 6510, GBSF, Davis, CA 95616, USA
Autism: Where Genetics Meets the Immune System
Description
Autism is a neurodevelopmental disorder diagnosed by 3 years of age on the basis of impaired social interaction and communication, as well as presence of rigid and stereotyped behaviors. Altered prenatal and early-postnatal neurodevelopment plays a pivotal role in autism pathogenesis. Family and twin studies have conclusively demonstrated that autism displays the most prominent genetic contributions among all neuropsychiatric disorders. Yet, the identification of these genetic underpinnings has proven more complex than anticipated, and two decades of genetic investigation have unveiled relatively few cases which can be solely explained on the basis of de novo mutations or cytogenetic abnormalities. The vast majority of gene variants or CNVs associated with autism either confer vulnerability or protection but do not directly cause the disease. While this may stem from genetic heterogeneity, epigenetic events, gene-gene and gene-environment interactions, converging lines of evidence support prominent immune abnormalities in many autistic individuals and even in their first-degree relatives, as well as relevant roles in neurodevelopment for molecules traditionally identified as involved in innate or acquired immunity.
This crosstalk between the nervous and immune system poses some questions fundamental to the definition of a pathophysiological construct able to explain autism in most cases. We are particularly interested in manuscripts addressing, under any perspective, two critical questions: (a) how and to what extent is abnormal immunity compatible with high heritability in autism? Is it genetically driven? And (b) how and to what extent is abnormal immunity responsible for the autistic phenotype? Or is it merely an innocent by-standing condition with no immediate link to autistic symptoms? Potential topics include, but are not limited to:
- Autism genes playing functional roles in the immune system
- Immune abnormalities in syndromic forms of autism due to genetic mutations or chromosomal rearrangements
- Influence of immune system responses on neurodevelopment and the risk of ASD
- Environmental-immune interactions during development and ASD pathogenesis
- Peripheral markers of abnormal immunity in ASD
- Microglial activation, cytokines, and neuropathology
- Physiological roles for immune molecules in neurodevelopment
- Animal models of autism implicating altered immunity
- Altered immunity as a familial endophenotype in ASD
- Immune-based pharmacological interventions
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