Mapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation.

ABSTRACT: Ataxia-Telangiectasia (A-T) is caused by biallelic Ataxia-Telangiectasia Mutated (ATM) protein mutations and is hallmarked by neurodegeneration, immunodeficiency and cancer susceptibility. Emerging work suggests that non-coding RNAs are integral to the ATM driven DNA damage response, yet the scope of non-coding RNA perturbation in A-T has not systematically mapped. This study is done to chart and synthesize all primary evidence on ncRNA dysregulation in A-T and to identify mechanistic gaps and research priorities. The evidence base comprises a total of five studies focused exclusively on microRNAs and long non-coding RNAs. Baseline sequencing of 20 patients revealed consistent downregulation of miR-195-5p, miR-30a-5p and miR-342-3p. Low dose γ-irradiation of ATM-null lymphoblastoid cell li

SUBMITTER: Iqbal MJ 

PROVIDER: S-EPMC12511216 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature