Clinico-pathologic findings in medullary cystic kidney disease type 2
PEDIATRIC NEPHROLOGY
Authors: Bleyer, AJ; Hart, TC; Willingham, MC; Iskandar, SS; Gorry, MC; Trachtman, H
Abstract
Medullary cystic kidney disease type 2 is an uncommon autosomal dominant condition characterized by juvenile onset hyperuricemia, precocious gout and chronic renal failure progressing to end-stage renal disease in the 4th through 7th decades of life. A family suffering from this condition is described. The patient in the index case presented with renal insufficiency as a child. A renal biopsy revealed tubular atrophy, and immunohistochemical staining of the tissue for uromodulin (Tamm Horsfall protein) revealed dense deposits in renal tubular cells. Genetic testing revealed a single nucleotide mutation (c.899G>A) resulting in an exchange of a cysteine residue for tyrosine (C300Y). Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death.
Evaluation of Anticancer and Neuroprotective Properties of Curcumin: a Network Analysis
RESEARCH JOURNAL OF PHARMACOGNOSY
Authors: Rostami-Nejad, Mohammad; Razzaghi, Mohammadreza; Esmaeili, Somayeh; Zali, Alireza; Rezaei-Tavirani, Majid; Heidari, Mohammah Hossein; Rezaei-Tavirani, Mostafa; Zamanian-Azodi, Mona; Ahmadi, Nayebali
Abstract
Background and objectives: Curcumin as a medicinal substance has shown effective in different kinds of diseases especially cancer. To understand its underlying mechanism, molecular complementary study of differentially expressed microRNAs (DEMs) could assist. In this view, regulatory network analysis of DEMs of melanoma cancer treated with curcumin versus the untreated male Mus musculus was investigated in this study. Methods: Data was obtained from the database of Gene Expression Omnibus (GEO), https://www.ncbi.nlm.nih.gov/geo/.At first, the log fold change (FC) >= 2 was assigned for predicting a cut off for DEMs in the following study. GEO2R detected a number of 250 top significantly changed microRNAs based on the priority of the most statistically significant ones. These miRNAs were then explored for regulatory network analysis via Cytoscape softwarev.3.7.2 and its plug-ins. Results: The findings indicated that a number of 21 miRNAs were statistically significant with differential expression amounts. Regulatory network also identified important microRNAs of mmu-miR-199a, mmu-miR-199b, mmu-miR-21, mmu-miR-142-3p, mmu-miR-148a, mmu-miR-214 and genes of Pkp3, Usp19, Ercc4, Ttc25, Atp13a2, Akr1b7, Umod, Nup188, Imp3, and Tmem74b. The highest ranked hub was mmu-miR-199a, which had nine connections. Conclusion: The present study offers new insights into the molecular mechanism of curcumin health benefits in melanoma cancer.