New ASD gene identified. Molybdenum Cofactor Sulfurase enzyme linked to Autism.

autism1A new study published in the Molecular Psychiatry journal, has revealed that a new gene plays a crucial role during early development in humans and may induce expression of characteristic autistic traits. is a heterogenous disorder with only one percent of each individual gene linked to symptoms.

The collaborative study investigated the mechanism of heterogenous genes involved in (). impacts on 7.6 million people according to the World Health Organization.

The researchers used olfactory stem cell models obtained from nasal biopsies to determine the new genes involved in . The research revealed that the gene coding for the (Molybdenum Cofactor Sulfurase) enzyme was under-expressed in stem cells from nine out of eleven of the adults studied.

has been associated with immunity and inflammation as well as the destruction of free radicals. The analysis of different tissues has identified expression in the brain cells and intestine of several species, and notably the C. elegans worm and mammals. The groundbreaking study for the first time has revealed expression of the protein in brain tissue and is linked to hypersensitivity to oxidative stress (i.e. to the toxicity of free radicals), a smaller number of synapses and abnormal neurotransmission due to a reduction in the number of vesicles carrying neurotransmitters.

The involvement of this enzyme in susceptibility to oxidative stress, which has frequently been observed in autistic children, its association with gastrointestinal diseases and its role in nerve development and neurotransmission suggests that it produces many of the symptoms that characterize .


Olfactory stem cells reveal as a new player in , F. Féron, B. Gepner, E. Lacassagne, D. Stephan, B. Mesnage, M-P. Blanchard, N. Boulanger, C. Tardif, A. Devèze, S. Rousseau, K. Suzuki, JC. Izpisua Belmonte, M. Khrestchatisky, E. Nivet and M. Erard-Garcia, Molecular Psychiatry, doi: 10.1038/mp.2015.106, published online 4 August 2015.

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