Genetic mechanism of ASD-related monogenetic diseases

نویسندگان

چکیده

Autism spectrum disorder (ASD) is a series of neurodevelopmental disorders presented as behavioral abnormality such problems with social, communication, and repetitive behaviors. There are four ASD-related monogenetic diseases worthy analysis: fragile X syndrome, PTEN hamartoma tumor tuberous sclerosis complex, Rett syndrome. These respectively caused by one gene have something in common phenotype while also their unique features. All them been related to the same pathway: phosphatidylinositol 3-phosphate kinase (PI3K) / protein B (PKB or Akt) mammalian target rapamycin (mTOR) signaling pathway, which plays primary role many physiological processes on cellular level. Nowadays, there no cure for these diseases, thus much remains be done find ways treat patients mentioned above.

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ژورنال

عنوان ژورنال: E3S web of conferences

سال: 2021

ISSN: ['2555-0403', '2267-1242']

DOI: https://doi.org/10.1051/e3sconf/202129203074