Project

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Name of Applicant : Marion Benabou
Date of application : 14-06-2017
Unit : Human Genetics and Cognitive Functions
Location : Fernbach 1rst floor room 27
Phone : 01 45 68 83 99
@ Mail : thomas.bourgeron@pasteur.fr
@ PI-Mail : thomas.bourgeron@pasteur.fr

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Project context and summary :

Autism Spectrum Disorders (ASD) are heterogeneous neurodevelopmental disorders with a complex genetic architecture. They are characterized by impaired social communication, stereotyped behaviors and restricted interests and are frequently associated with comorbidities such as intellectual disability, epilepsy and severe sleep disorders. Hyperserotonemia and low melatonin levels are among the most replicated endophenotypes reported in ASD, but the genetic causes of such alterations remain largely unknown. Based on the biochemical profile of 717 individuals including 213 children with ASD, 128 unaffected siblings and 376 parents and other relatives, we aim to estimate the heritability of five quantitative traits associated with the melatonin synthesis pathway: whole-blood serotonin, platelet N-acetylserotonin (NAS) and plasma melatonin levels, as well as the two enzymes AANAT and ASMT activity measured in platelets.

Related team publications :