Infrared (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopies correlative study on rare diseases

Ochronotic pigment is a hallmark of Alkaptonuria (AKU), an ultra-rare disease responsible of tissue degeneration leading to a severe arthropathy in comorbidity with amyloidosis. Nevertheless, conventional bio-assays have not yet clarified composition and pathophysiological role of pigment and its structural relationship with amyloids.

Synchrotron Radiation Infrared and X-ray Fluorescence microscopies have been employed as a novel approach to characterize AKU cartilage tissues, in combination with standardized analyses. These investigation tools allowed to strength the correlation between AKU and arthropathy, revealing AKU peculiar features, such as the presence of amyloids and improper calcifications. These results could open new scenarios in the understanding of this rare disorder.

Facility: Beamlines SISSI and TwinMic.

Bibliography: E. Mitri et al., “A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease”, Biophys. Acta. Gen. Subj., 2017, 1861, 1000. DOI: 10.1016/j.bbagen.2017.02.008