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Functional characterization of new variants presents in the GLA gene of patients with suspicion of Fabry disease

Grant number: 19/12261-0
Support Opportunities:Scholarships in Brazil - Master
Effective date (Start): February 01, 2020
Effective date (End): April 30, 2021
Field of knowledge:Biological Sciences - Biochemistry - Molecular Biology
Principal Investigator:João Bosco Pesquero
Grantee:Agatha Ribeiro Mendes
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated research grant:14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges, AP.TEM


The Fabry Disease (FD) is a rare pathology caused by variants presents in the GLA gene, localized in the long arm of the X chromosome. Pathogenic variants in this gene lead to low activity in different levels of the enzyme alfa-galactosidase A (±-Gal A), causing an acummulation of the globotriaosylceramide (Gb3) in the lysosomes. This disease presents two phenotype classifications, classical and non-classical. The first is the most severe and precocious. The symptoms are multisystemic and therefore, the diagnosis is complex, and may take ten years or more to be effective. The recommended diagnosis is the evaluation of the enzymatic activity and molecular analysis of the GLA gene for men. In women, due to random inactivation of the X chromosome, only molecular analysis is performed. However, due to the high number of family-restricted variants, the molecular diagnosis is still not enough to confirm the pathogenicity of the variants, being necessary to perform functional tests. Therefore, this project aims at the functional characterization of variants found in the GLA gene regarding and the potential pathogenicity of this variants. We will analyze four variants described in the literature in patients with suspicion of Fabry Disease, however without functional characterization. Other one variant analyzed in this study is novel mutation found in patients with suspicion of Fabry disease analyzed in our laboratory. Therefore, it is expected an improvement in the treatment of this disease, thus increasing the life expectancy of these patients. (AU)

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