Methods for diagnosing and treating autism

The present invention relates generally to a method for diagnosing autism spectrum disorder (ASD) in a biological sample obtained from a subject comprising the steps of: i) extracting the miRNAs from the biological sample, ii) determining the level of at least one miRNA selected from miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and/or miR-499a-5p in the nucleic acid extraction; iii) comparing the level measured at step ii) with its predetermined reference value, and iv) concluding that the subject suffers from ASD when the level of at least one miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and/or miR-499a-5p is lower than its predetermined reference value or concluding that the subject does not suffer from ASD when the level of at least one miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and/or miR-499a-5p is the same value as its predetermined reference value. Inventors report a characteristic miRNA profile of expression of six miRNA genes detected by quantitative qRT-PCR analysis in human patients and further evidenced in two established animal models of the disease. MicroRNAs miR-19a-3p, miR-361-5p, miR-3613-3p, miR-150-5p, miR-126-3p, and miR-499a-5p were found to be expressed at low to very low levels in the serum of 45 human patients with autism.

Keywords: miRNA signature, Autism Spectrum Disorders
Patent Application number: EP20 305 592.6 on 04/06/2020
PCT/EP2021/064952 on 03/06/2021
Publications:
Sci Rep 2020 Jun 9 Ozkul et al. A heritable profile of six miRNAs in autistic patients and mouse modelsdoi: 10.1038/s41598-020-65847-8.

Reference:

BIO19022-D1

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Pierre MAZOT
Pierre MAZOT
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Patent filling date: 2020-06-04

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