New Friedreich Ataxia Findings from Federal University of the State of Rio de Janeiro (UNIRIO) Described (An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia).

Researchers from the Federal University of the State of Rio de Janeiro (UNIRIO) have conducted an in silico analysis of genetic variants and structural modeling of the human frataxin protein in Friedreich's Ataxia (FRDA). FRDA is the most prevalent form of hereditary ataxias, characterized by progressive movement ataxia, loss of vibratory sensitivity, and skeletal deformities. The study identified 226 genetic variants of the frataxin gene, with predictive analyses revealing a prevalence of detrimental mutations that impact protein function. The research suggests potential disturbances in the interaction profile of certain protein domains, aligning with existing literature. [Extracted from the article]