Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet-Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. The authors present a typical case of pigmentary retinopathy due to Bardet-Biedl syndrome and made a brief commentary about the disease's cardinal manifestations.
Background: Exposure to viral antigens that share amino acid (AA) sequence similar with self-antigens might trigger autoimmune diseases in genetically predisposed individuals, and the molecular mimicry theory suggests that epitope mimicry between the virus and human proteins can activate autoimmune diseases like type 1 diabetes (T1DM). Objective: The purpose of this study is to explore the possible similarity between the AA sequences of human glutamic acid decarboxylase - 65 kDa isoform (GAD65) human insulin, and proteins of H1N1 influenza (strain (A/California/7/2009(H1N1)), using databanks of proteins and immunogenic peptides to explain the development of T1DM. Methods: AA sequences of the A/California/7/2009(H1N1) strain, GAD65 and human insulin, available in the NCBI (National Center for Biotechnology Information) database were compared using the Basic Local Alignment Search Tool (BLAST) software. Results: Similarities were found among the A/California/7/2009(H1N1) strain, GAD and the human insulin. The similarities between Influenza A virus (A/California/7/2009(H1N1)) and the GAD65 ranged from 15.0 % to 56.0%, with statistical significance (P 0.006 and P 0.017). The similarities between the Influenza A virus (A/California/7/2009(H1N1)) and insulin ranged from 38.0 % to 45.0%, but without statistical significance. Conclusion: Bioinformatics data suggest a possible pathogenic link between A/California/7/2009(H1N1) and T1DM. Through molecular mimicry is has been observed that sequences similarity between viral Polyprotein and self-proteins could induce a crossover immune response to self-antigens, with a breakdown of self-tolerance, resulting in autoimmune disease.
Objective To evaluate the possible similarity between the AA sequences of human insulin and human glutamic acid decarboxylase-65 (GAD65) with the SARS-CoV-2/COVID proteins to explain the possible trigger of DM1. Methods AA sequences of human insulin, GAD65 and SARS-CoV-2 were obtained from the Protein Data Bank archive information database (RCSB PDB). NetMHCpan v4.1 was used for epitope prediction. Sequences were compared using BLAST for epitope comparison and Pairwise Structure Alignment to assess protein similarity. The AA sequences of human insulin (4F0N) and GAD65 (2OKK) were compared with the sequences of the following SARS-CoV-2 proteins: SARS-Cov2 S protein at open state (7DDN), SARS-Cov2 S protein at close state (7DDD), SARS CoV-2 Spike protein (6ZB5), Crystal structure of SARS-CoV-2 nucleocapsid protein N-terminal RNA binding domain (6M3M), Crystal structure of SARS-CoV-2 nucleocapsid protein C-terminal RNA binding domain (7DE1), Crystal structure of NSP1 from SARS-CoV-2 (7K3N), and SARS-CoV-2 S trimer (7DK3)). Results The percent similarity between epitopes ranged from 45 to 60% (P 0.048) between both human insulin and SARS-CoV2 and for GAD 65 and SARS-CoV2, while the AA similarity of the evaluated samples ranged from 5.00–45.45% between human insulin and SARS-CoV2 and from 10.45–22.22% between GAD65 and SARS-CoV2. Conclusion Immunoinformatics data suggest a potential pathogenic link between SARS-CoV-2/COVID and DM1. Thus, by molecular mimicry, we found that sequence similarity between epitopes and AA sequence between SARS-CoV-2 / COVID and human insulin and GAD65 could lead to the production of an immune cross-response to self-antigens, with self-tolerance breakdown, which could thus trigger DM1.
Bile acids (BAs) are steroid molecules that have a hydrophilic and a hydrophobic end, and are synthesized exclusively in the liver, being end product of cholesterol catabolism. Type 2 diabetes mellitus (DM2) is a chronic degenerative disease, with a pathophysiology characterized by insulin resistance (IR), insulin deficiency due to insufficient production of pancreatic ß-cells, and elevated serum glucose levels leading to multiple complications. BAs are related to several metabolic alterations, including metabolic syndrome and DM2. It is currently known that BAs act as a ligand for the nuclear farnesoid X receptor, a receptor with an important role in glucose metabolism, lipids and cellular energy production, as well as in the regulation of production, elimination and mobilization of BAs. BAs have also been reported to act as a signaling pathway through of Takeda G protein-coupled receptor 5. In this manuscript, we describe the interface between BAs and metabolic disorders, in particular DM2, including discussing possibilities in the development of therapeutic procedures targeting BAs as an optional pathway in the treatment of DM2.
The history of muscle biopsy dates back to 1860, when Duchenne first performed a biopsy on a patient with symptoms of myopathy (1) . Since then, the basic and clinical science of muscle and muscle disease has gone through three stages of development: the classical period, the modern stage and the molecular era.
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