Articles: disease.
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Recent emergence of SARS-CoV-2 in human communities as the first major zoonotic pandemics of the new millennium following the emergence of SARS-CoV and MERS-CoV has increased our awareness about the future threat of viral zoonosis. Although, several studies have been conducted for better understanding of these viruses` evolution, and designing the effective anti-viral drugs and vaccines, the impact of human beings on occurrence of zoonotic diseases has been less considered and discussed. Improvement in global health resulted in human population growth, increasing demand for animal proteins, more exposures to wildlife, zoonotic and degradation of environment, which have facilitated interspecies transmissions. ⋯ It seems that intensified revision of human lifestyle is the best strategy to prevent the potential devastating future zoonotic pandemics. Herein, the characteristics of SARS-CoV, MERS-CoV, SARS-CoV-2, their transmission routs, their pathogenicity, the therapeutic and prevention approaches including of attempts for designing of effective prophylactic vaccines, anti-viral drugs, and the animal models that have been used for these studies have been reviewed (Ref. 134). Keywords: SARS-CoV-2, COVID-19, pandemic, zoonosis, SARS, MERS.
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Inherited metabolic disorders of glycoconjugate metabolism include congenital disorders of glycosylation (CDG) - disorders in biosynthesis of glycoconjugates; and some of the lysosomal storage diseases (LSD) - disorders of their degradation. This review summarizes the brief characteristics of metabolic pathways of synthesis and catabolism of glycoconjugates as well as the latest update of relevant enzymatic defects discovered in population. Every year the number of known subtypes of these disorders dramatically increases as a result of high-throughput analytical infrastructure applied. ⋯ Thus, disorders of glycoconjugate metabolism should be considered and ruled out in any unexplained syndrome. The collaboration between scientists and physicians plays an important role in the progress of such personalized diagnostics, that is essential mainly for rare diseases (Tab. 2, Fig. 1, Ref. 49). Keywords: congenital disorders of glycosylation, lysosomal storage disorders.
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Epigenetic mechanisms, which include DNA methylation, histone modification, and microRNA (miRNA), can produce heritable phenotypic changes without a change in DNA sequence. Disruption of gene expression patterns which are governed by epigenetics can result in autoimmune diseases, cancers, and various other maladies. Mechanisms of epigenetics include DNA methylation (and demethylation), histone modifications, and non-coding RNAs such as microRNAs. ⋯ In contrast to genetic changes, which are difficult to reverse, epigenetic aberrations can be pharmaceutically reversible. The emerging tools of epigenetics can be used as preventive, diagnostic, and therapeutic markers. With the development of drugs that target the specific epigenetic mechanisms involved in the regulation of gene expression, development and utilization of epigenetic tools are an appropriate and effective approach that can be clinically applied to the treatment of various diseases.
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Fabry disease (FD) is a rare disease associated with sphingolipid accumulation. Sphingolipids are components of plasma membranes that are important in podocyte function and accumulate in various glomerular diseases such as focal segmental glomerulosclerosis (FSGS). Both FD and FSGS can cause podocyte damage and are classified as podocytopathies. In this respect, FD and FSGS share the same pathophysiologic pathways. Previous screening studies have shown that a significant proportion of end-stage renal disease (ESRD) patients receiving hemodialysis (HD) have unsuspected FD, and the prevalence of low alpha-galactosidase A (αGLA) enzyme activity in these patients is higher than that in the normal population. We aimed to compare αGLA enzyme activity in patients with biopsy-proven FSGS and ESRD receiving HD. ⋯ We found that αGAL activity in patients with FSGS is lower than that in patients undergoing HD. The low enzyme activity in patients with FSGS may be explained by considering the similar pathogenesis of FSGS and FD, which may also lead to sphingolipid deposition and podocyte injury.