09Mar 2025
Blood DDIT4 and TRIM13 as Potential Biomarkers for MJD

Blood DDIT4 and TRIM13 as Potential Biomarkers for MJD

The study identified blood transcript levels of DDIT4, TRIM13, and P2RY13 as potential biomarkers for Machado–Joseph disease (MJD). These transcripts were consistently dysregulated in MJD patients, with DDIT4 and TRIM13 showing high accuracy in distinguishing MJD carriers from controls. The levels of these transcripts correlate with disease features like CAG repeat size and age at onset. Additionally, TRIM13 protein levels are elevated in the MJD brain, linking it to disease pathogenesis.

  • #neurology

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