Friedreich cardiomyopathy is a desminopathy.

Heart disease is an integral part of Friedreich ataxia (FA) and the most common cause of death in this autosomal recessive disease. The result of the mutation is lack of frataxin, a small mitochondrial protein. The clinical and pathological phenotypes of FA are complex, involving brain, spinal cord, dorsal root ganglia, sensory nerves, heart, and endocrine pancreas. The hypothesis is that frataxin deficiency causes downstream changes in the proteome of the affected tissues, including the heart. A proteomic analysis of heart proteins in FA cardiomyopathy by antibody microarray, Western blots, immunohistochemistry, and double-label laser scanning confocal immunofluorescence microscopy revealed upregulation of desmin and its chaperone protein, αB-crystallin. In normal hearts, these two proteins are co-localized at intercalated discs and Z discs. In FA, desmin and αB-crystallin aggregate, causing chaotic modification of intercalated discs, clustering of mitochondria, and destruction of the contractile apparatus of cardiomyocytes. Western blots of tissue lysates in FA cardiomyopathy reveal a truncated desmin isoprotein that migrates at a lower molecular weight range than wild type desmin. While desmin and αB-crystallin are not mutated in FA, the accumulation of these proteins in FA hearts allows the conclusion that FA cardiomyopathy is a desminopathy akin to desmin myopathy of skeletal muscle.

Influence of Mg Doping on ZnO Nanoparticles for Enhanced Photocatalytic Evaluation and Antibacterial Analysis.

In this research, a facile co-precipitation method was used to synthesize pure and Mg-doped ZnO nanoparticles (NPs). The structure, morphology, chemical composition, and optical and antibacterial activity of the synthesized nanoparticles (NPs) were studied with respect to pure and Mg-doped ZnO concentrations (0-7.5 molar (M) %). X-ray diffraction pattern confirmed the presence of crystalline, hexagonal wurtzite phase of ZnO. Scanning electron microscope (SEM) images revealed that pure and Mg-doped ZnO NPs were in the nanoscale regime with hexagonal crystalline morphology around 30-110 nm. Optical characterization of the sample revealed that the band gap energy (Eg) decreased from 3.36 to 3.04 eV with an increase in Mg2+ doping concentration. Optical absorption spectrum of ZnO redshifted as the Mg concentration varied from 2.5 to 7.5 M. Photoluminescence (PL) spectra showed UV emission peak around 400 nm. Enhanced visible emission between 430 and 600 nm with Mg2+ doping indicated the defect density in ZnO by occupying Zn2+ vacancies with Mg2+ ions. Photocatalytic studies revealed that 7.5% Mg-doped ZnO NPs exhibited maximum degradation (78%) for Rhodamine B (RhB) dye under UV-Vis irradiation. Antibacterial studies were conducted using Gram-positive and Gram-negative bacteria. The results demonstrated that doping with Mg ions inside the ZnO matrix had enhanced the antibacterial activity against all types of bacteria and its performance was improved with successive increment in Mg ion concentration inside ZnO NPs.