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Publication : CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease.

First Author  Tolstik E Year  2022
Journal  Int J Mol Sci Volume  23
Issue  10 PubMed ID  35628155
Mgi Jnum  J:325079 Mgi Id  MGI:7283227
Doi  10.3390/ijms23105345 Citation  Tolstik E, et al. (2022) CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease. Int J Mol Sci 23(10)
abstractText  Vibrational spectroscopy can detect characteristic biomolecular signatures and thus has the potential to support diagnostics. Fabry disease (FD) is a lipid disorder disease that leads to accumulations of globotriaosylceramide in different organs, including the heart, which is particularly critical for the patient's prognosis. Effective treatment options are available if initiated at early disease stages, but many patients are late- or under-diagnosed. Since Coherent anti-Stokes Raman (CARS) imaging has a high sensitivity for lipid/protein shifts, we applied CARS as a diagnostic tool to assess cardiac FD manifestation in an FD mouse model. CARS measurements combined with multivariate data analysis, including image preprocessing followed by image clustering and data-driven modeling, allowed for differentiation between FD and control groups. Indeed, CARS identified shifts of lipid/protein content between the two groups in cardiac tissue visually and by subsequent automated bioinformatic discrimination with a mean sensitivity of 90-96%. Of note, this genotype differentiation was successful at a very early time point during disease development when only kidneys are visibly affected by globotriaosylceramide depositions. Altogether, the sensitivity of CARS combined with multivariate analysis allows reliable diagnostic support of early FD organ manifestation and may thus improve diagnosis, prognosis, and possibly therapeutic monitoring of FD.
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