Evaluation of the correlation between CAG trinucleotide expansion in ATXN2 and age at onset of symptoms in Spinocerebellar Ataxia type 3.

• Grant number: 22/08234-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: October 01, 2022
• End date: September 30, 2023
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Wilson Marques Junior
• Grantee: Beatriz Maria Poletti de Melo
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

The present study aims to seek a correlation between CAG expansions in the ATXN2 gene and the age of onset of symptoms in SCA3. Although the number of CAG repeats in the ATXN3 gene is a strong predictor of progression, we know that it is not the only factor that affects the age at onset of the disease, since there are patients with the same number of repeats who manifest the disease at different ages and with different severity. It is known that other genetic or non-genetic factors not yet identified contribute to the age of onset of symptoms (VAZ, R. L. ET AL., 2021).Therefore, a complexity of mechanisms, cellular and molecular pathways are involved in the pathogenesis of this disease. This retrospective study is expected to add knowledge about other factors, in this case genetic, related to the ATXN2 gene, which may interfere with the age at onset of symptoms in Spinocerebellar Ataxia type 3 and which may contribute to future therapeutic perspectives for the illness.