Co-Investigator: Dr. Siniscalco Dario
Identification of biomarkers for autism-related subtypes
Autism spectrum disorders (ASDs) are severe heterogeneous neuro-developmental disorders characterized by dysfunctions in social interaction and communication skills, repetitive and stereotypic verbal and non-verbal behaviours. Raised from strictly interactions among epigenetic and environmental factors, ASDs are now recognized as multifactorial diseases. Nowadays, autism pathologies are increasing in incidence and prevalence until to present rates of 11.3 per 1,000 (one in 88) children aged 8 years in the US, according to Center for Disease Control; indeed ASDs are being recognized as an urgent public health problem. ASDs significantly impact on the quality of life for both patients and their families. The estimated total lifetime societal cost of caring for one individual with autism is $3.2 million US dollars. Unfortunately, too often ASDs are underestimated and affected children are poorly addressed. The autism diagnosis is suffering by the lack of a specific biomarker for autism, making these pathologies very difficult to be diagnosed. Indeed, despite many research efforts, currently, there are no biomarkers for an exact ASD diagnosis. The current diagnosis of autism is only based on the evaluation of behaviour and social communication skills. The absence of a specific biomarker renders the diagnosis potentially subjective. The priority for the future of ASD management will be the identification of potential targets for the development of diagnostic and/or therapeutic strategies. Several biochemical pathways are associated with ASDs: oxidative stress; endoplasmic reticulum stress; decreased methylation capacity; limited production of glutathione; mitochondrial dysfunction; intestinal impaired permeability and dysbiosis; increased toxic metal burden; immune dysregulation; cytokine over-production; endocannabinoid system dysregulation; neuron-glia cross-talk imbalance.
However, the mechanisms of ASD pathogenesis are still unknown, making the biomarker discovery a very tough process. As spectrum, autism-related pathologies are characterized by a large array of specific conditions that address through several autistic subtypes. The exact identification of every single subtype will help in more appropriate diagnosis and specific therapy.
The aim of this project is the establishment of an in vitro system for autism biomarker discovery. Exact identification of a cellular model of autism will address the management of the autistic disorder through a more targeted therapy.