Ataxia-Telangiectasia (A-T) is a rare neurodegenerative multisystem disease caused by mutations in the A-T Mutated (ATM) gene resulting in cerebellar ataxia, immunodeficiency and an increased cancer risk. Copper and zinc play important roles in similar cellular processes as the ATM protein, such as cell growth, apoptosis, and oxidative stress. This study aimed to explore copper and zinc levels in individuals with A-T since imbalances in these trace elements may contribute to the clinical features commonly seen in A-T and therefore be a target for novel therapies; furthermore we aimed to assess the potential role of copper and zinc as disease biomarkers. In this retrospective cohort study, plasma copper and zinc levels were collected from 37 individuals with A-T and compared with age-related reference values. The results showed lower zinc levels in pediatric individuals with classic A-T, but no differences in copper levels. In adults, copper levels were lower in classic A-T, but not in variant A-T. These findings suggest that copper and zinc metabolisms are dysregulated in A-T, but since mixed model analysis showed minimal changes over time, copper and zinc do not appear to be reliable biomarkers for disease progression.
Keywords: Ataxia–Telangiectasia; copper; trace elements; zinc.