Telomere Length as a Diagnostic Biomarker for Cardiomyopathy

Stanford researchers in the Blau Lab have discovered that telomere length can be used as a biomarker for cardiomyopathy diagnosis and drug screening with cardiomyocytes. In cases of hereditary cardiomyopathies without known mutations, this technology using quantitative fluorescent in situ hybridization (QFISH) to detect shortened telomeres can predict disease risk. It can be applied to cardiac biopsies, archived samples, or cardiomyocytes derived from patient blood via induced pluripotent stem cells (iPSCs). This telomere analysis enables stratifying patients for clinical trials and identifying potential cardiomyopathy therapies.

Stage of Research
Using quantitative fluorescence in situ hybridization (QFISH), the inventors have demonstrated greatly shortened telomeres (30-45% of normal length) in three heritable human diseases that are marked with cardiomyopathy. Telomere shortening was found in both primary cardiac biopsies as well as iPSC-derived cardiomyocytes from patient blood samples.