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Analysis of the expression and number of copies of line1 in neuronies obtained in vitro from individuals within the autism spectrum disorder and in the sperms of their parents

Grant number: 20/04003-8
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): December 01, 2020
Effective date (End): November 30, 2021
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Claudia Berlim de Mello
Grantee:Kathleen da Silva Sousa
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil


Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is among the missing heritability, that is, it is part of a set of complex diseases whose causes and mechanisms of inheritance have not yet been unveiled. Although twin studies suggest a strong genetic component, only 10% of cases of ASD are derived from these genetic disorders. This evidence indicates the critical participation of environmental risk factors in the etiology of the disorder and the importance of researching biological factors such as genetic and epigenetic mechanisms, in addition to environmental factors. Data from the scientific literature indicate that transposable elements can escape the process of global hypomethylation in gametes, altering the phenotype through the permanence of epigenetic marks. Among these transposable elements, one that stands out is the longinterspersed element-1 (LINE-1) sequence, which has been correlated with TEA. Articles published in recent years, found an increase in the copies number of the LINE-1 region in specific areas of the brain of patients with ASD compared to control patients, in addition to, the hypomethylation of this sequence in somatic cells of patients with autism spectrum disorder, showing the possible participation of the LINE-1 sequence in the etiology of the disorder. Thus, the current project aims to investigate the expression profile and variation in the number of copies of the LINE-1 sequences in patients with ASD and in their parents' sperm, demonstrating the importance of investigating changes in gametes to understand the transmission of transgenerational inheritance epigenetics of the disorder.

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