Edward V. Quadros, PhD from Department of Medicine, SUNY Downstate Medical Center, Brooklyn, NY, USA is visiting Aarhus and will give a CFIN guest talk on "Folate Receptor Autoimmunity in Pregnancy, Autism Spectrum and psychiatric disorders"

27.03.2017 | Henriette Blæsild Vuust

Short Description of what will be discussed during the presentation:

• Folate absorption and transport
• Role of folate in metabolic pathways
• Folate in pregnancy and fetal brain development
• Folate receptor autoimmune disorder
• Folinic acid treatment for neurodevelopmental disorders including autism and schizophrenia
• Proof of hypothesis from the rat model of folate deficiency and exposure to folate receptor antibodies

The oral presentation will provide a brief description of folate absorption, transport and cellular uptake; specifically to the fetus and to the brain. I will review the role of folate in key metabolic pathways as it relates to fetal development and brain function. A summary of published data on the prevalence of folate receptor autoantibodies in neurodevelopmental disorders including autism spectrum disorders and response to folinc acid treatment will be discussed.

Folate receptor alpha autoantibodies were first identified in women with a history of neural tube defect pregnancy and provided an explanation for folate deficiency in the fetus by blocking transplacental transport of folate (NEJM, 2004). These antibodies were subsequently associated with cerebral folate deficiency syndrome in children and provided an explanation for the low folate in the CSF due to folate receptor antibodies blocking folate transport across the choroid plexus (NEJM 2005). About 70% of children diagnosed with ASD are positive for folate receptor antibodies and a significant number of these children respond to high dose folinic acid treatment (Mol Psych, 2013). This preliminary observation is now confirmed by a double-blind placebo controlled trial (Mol Psych 2016). Identifying women and children with folate receptor autoantibodies and intervening early may prevent many of the developmental disorders attributed to this autoimmune disorder. Proof of the pathological effects of folate deficiency during gestation and during post-natal development is now available from animal model studies. We have developed an animal model of exposure to folate receptor antibodies and have shown severe learning, cognitive and set-shifting deficits in the pups. These deficits can be prevented by administering folinic acid and dexamethasone (Mol Psych, 2016). The behavioral deficits can be transmitted to subsequent generations suggesting epigenetic changes in the germline cells. This animal model provides a unique opportunity to determine genes, pathways and epigenetic changes that contribute the behavioral phenotype.

What will the audience take away from your presentation?

• A. The audience will learn about a new autoimmune disorder associated with neurodevelopmental disorders.
• B. This information will provide a basic understanding of the disorder, how to potentially prevent, diagnose and treat the clinical disorder.
• C. Since there are no specific treatments for most neurodevelopmental disorders, the diagnosis and treatment of disorders due to folate receptor autoantibodies can be considered a significant advance.
• D. Understanding the role of folate in fetal and neonatal brain development and perturbation of this by folate deficiency provides the opportunity to identify genes and pathways affected in developmental disorders.
• E. This knowledge is important for managing and treating these disorders and for understanding pathways and genes involved in behavioral deficits that affect learning, memory and cognition.

Biography of the author

Dr Quadros is a Research Professor in the Departments of Medicine and Cell Biology at SUNY Downstate Medical Center, Brooklyn, NY, USA. He has published over 80 manuscripts in peer-reviewed journals on vitamin B12 and folate metabolism. He has made seminal contributions towards our understanding of absorption, transport, cellular uptake and intracellular metabolism of vitamin B12. His current work is aimed at identifying pathways and genes involved in the CNS pathology associated with B12 deficiency. His current research in folate metabolism is aimed at understanding the role of this vitamin in brain development and function and of folate receptor autoimmune disorder and folate deficiency in disrupting this in autism and neuro developmental disorders.

Full Bio @ http://www.downstate.edu/cellbiology/faculty/Dr.EdQuadros.html

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