Genetic mechanism of ASD-related monogenetic diseases

¹ School of International Pharmaceutical Business, China Pharmaceutical University, Nanjing, Jiangsu Province, 211198, China
² School of Biochemistry and Cell Biology, University College Cork, Cork, Co Cork, Ireland T12 K8AF

^† These authors contribute equally.
^* Corresponding author. Email: 2020200457@stu.cpu.edu.cn

Abstract

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