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O akci
Alkaptonuria (AKU) is a rare genetic disorder caused by mutations in the HGD gene, leading to the accumulation of homogentisic acid (HGA) and resulting in darkened body fluids, blackened connective tissues, and joint complications. Our laboratory has successfully developed a zebrafish model of AKU by inducing mutations in the hgd gene. This model faithfully reproduces the hallmark symptoms of human AKU, including pigmentation abnormalities. Validation of these phenotypic features was achieved using Raman spectroscopy and mass spectrometry. This zebrafish model not only enhances our understanding of AKU pathology but also serves as a powerful tool for testing potential therapies. In my talk, I will explore the latest advancements in inherited metabolic diseases and the pivotal role of animal models in biomedical research.
Více informací
This event is part of the Principal Investigator Seminar Series, the schedule of seminars can be found here.
