Background: Glycosidases profusion in male reproductive fluids suggests a possible relationship with sperm function. Although HEXOSAMINIDASE (Hex) is the most active glycosidase in epididymal fluid and seminal plasma, as well as in spermatozoa, Glucosidase is considered a marker for epididymal function and azoospermia.Objective: The aim of this study was to determine Hex activity in seminal plasma from patients with normal and abnormal spermograms and analyze its correlation with seminal parameters.Materials and Methods: In this cross sectional study, seminal plasma from azoospermic, asthenozoospermic, teratozoospermic, and normozoospermic patients was analyzed for the activity of: total Hex, HexA isoform, and glucosidase. Besides, hexosamine levels were determined, and the amount of Hex was quantified by immunoblot with a specific antibody. Correlation of Hex activity with seminal parameters was also analyzed.Results: Hex activity, like glucosidase, was significantly reduced in azoospermic samples (44, 49, and 60% reduction for total Hex, HexA and glucosidase, respectively). A reduced amount of Hex in azoospermic samples was confirmed by western immunoblot. Hex activity was negatively correlated with round cells in azoospermic samples and positively correlated with motility in asthenozoospermic ones.Conclusion: The results suggested that Hex activity was reduced in azoospermic samples and this was due to a lower amount of enzyme. The correlation to seminal parameters related to particular pathologies suggests a possible relationship of Hex with fertilizing capacity.

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-HEXOSAMINIDASE A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population.Methods: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion.Results: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation.Conclusion: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.

Background: Tay-Sachs disease is an autosomal-recessive lysosomal storage metabolic disorder. The typical symptoms of the disease include ataxia, muscle weakness, and mental disorders. The severity of the clinical symptom relies on the enzymatic activity of residual HEXOSAMINIDASE-A. Case Presentation: The patients were two Iranian (Tabriz city, East Azerbaijan Province, Iran) 22-month-old male identical twins of distant consanguineous parents with a high Apgar who score referred to Tabriz Children Hospital, Tabriz, Iran. Both twins had normal growth until 7 months of age. They started regression after 7 months of age and became hypotonic so that they could not keep their neck and control their head. The enzyme analysis of the patients showed the low-level activity of HEXOSAMINIDASE-A. A considerable delay in normal myelination process was discovered by brain Magnetic Resonance Imaging in the patients. Conclusion: It can be determined that Tay-Sachs disease can occur in twins of distant consanguineous parents. Further studies are needed for detecting the mutations relating to the disease in the patients as well as their families.

Purpose: To present a new case of clinical adult GM2 gangliosidosis with cherry red spot. Patient and findings: A 41-year-old male presented with progressive bilateral visual loss, ataxia, dystonia, dysarthria, and muscle weakness. Cherry red spots were evident in both his eyes. Other systemic examinations were unremarkable. A clinical diagnosis of adult GM2 gangliosidosis was made but laboratory confirmation by white blood cell HEXOSAMINIDASE A enzyme level was not available.Conclusion: Adult GM2 gangliosidosis a rare lipid storage disease, which is associated with cherry red spot and progressive degenerative neurologic findings. Laboratory confirmation is by evaluation of white blood cell HEXOSAMINIDASE A enzyme.

Introduction: Focal segmental glomerulosclerosis (FSGS), the most common primary glomerular disease, is a diverse clinical entity that occurs after podocyte injury. Although numerous studies have suggested molecular pathways responsible for the development of FSGS, many still remain unknown about its pathogenic mechanisms. Two important pathways were predicted as candidates for the pathogenesis of FSGS in our previous in silico analysis, whom we aim to confirm experimentally in the present study. Methods: The expression levels of 4 enzyme genes that are representative of “ chondroitin sulfate degradation” and “ eicosanoid metabolism” pathways were investigated in the urinary sediments of biopsy-proven FSGS patients and healthy subjects using real-time polymerase chain reaction (RT-PCR). These target genes were arylsulfatase, HEXOSAMINIDASE, cyclooxygenase-2 (COX-2), and prostaglandin I2 synthase. The patients were sub-divided into 2 groups based on the range of proteinuria and glomerular filtration rate and were compared for variation in the expression of target genes. Correlation of target genes with clinical and pathological characteristics of the disease was calculated and receiver operating characteristic (ROC) analysis was performed. Results: A combined panel of arylsulfatase, HEXOSAMINIDASE, and COX-2 improved the diagnosis of FSGS by 76%. HEXOSAMINIDASE was correlated with the level of proteinuria, while COX-2 was correlated with interstitial inflammation and serum creatinine level in the disease group. Conclusion: Our data supported the implication of these target genes and pathways in the pathogenesis of FSGS. In addition, these genes can be considered as non-invasive biomarkers for FSGS.