ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.

ABSTRACT:

Background

Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.

Methods

A-T patients with defined genetic diagnoses were classified based on CSR and based on the severity of their medical complications. Isolated peripheral blood mononuclear cells from any patient were evaluated before and after exposure to 0.5 Gy ionizing radiation for one minute. Western blotting was performed to identify the expression of ATM and phosphorylated ATM (p-ATM) proteins compared to age-sex-matched hea

SUBMITTER: Salami F 

PROVIDER: S-EPMC11762072 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature