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https://www.readbyqxmd.com/read/27904025/early-raas-blockade-exerts-renoprotective-effects-in-autosomal-recessive-alport-syndrome
#1
Nao Uchida, Naonori Kumagai, Kandai Nozu, Xue Jun Fu, Kazumoto Iijima, Yoshiaki Kondo, Shigeo Kure
Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport syndrome, and two mutations in either COL4A3 or COL4A4 causes an autosomal recessive Alport syndrome. Recently, renin-angiotensin-aldosterone system (RAAS) blockade has been shown to attenuate effectively disease progression in Alport syndrome...
2016: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27899308/insight-gained-from-genome-wide-interaction-and-enrichment-analysis-on-weight-gain-during-citalopram-treatment
#2
Henrik Thyge Corfitsen, Antonio Drago
Weight gain is a possible side effect of the pharmacological antidepressant treatments. Defining antidepressant prescriptions based on personal genetic makeups would decrease the risk of weight gain and increase the quality of the current antidepressant pharmacological treatments. 643 depressed, citalopram treated individuals with available clinical and genome-wide genetic information were investigated to identify the molecular pathways associated with weight gain. 111 individuals experienced weight gain during citalopram treatment...
November 27, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27859054/alport-syndrome-impact-of-digenic-inheritance-in-patients-management
#3
Chiara Fallerini, Margherita Baldassarri, Eva Trevisson, Valeria Morbidoni, Angela La Manna, Roberta Lazzarin, Andrea Pasini, Giancarlo Barbano, Angela Rosa Pinciaroli, Guido Garosi, Elisa Frullanti, Anna Maria Pinto, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani
Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance. Here we present a new series of families with digenic inheritance and we discuss consequences for genetic counseling and risk assessment. Out of 5 families harboring variants in more than one COL4 gene detected by Next Generation Sequencing (NGS), minigene splicing assay allowed us to identify four as true digenic...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27816395/-alport-syndrome-hereditary-nephropathy-associated-with-mutations-in-genes-coding-for-type-iv-collagen-chains
#4
Laurence Heidet, Marie-Claire Gubler
Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the glomerular basement membranes, a progressive sensorineural hearing loss and sometimes ocular involvement. Its incidence is less than 1 per 5000 individuals and the disease is the cause of about 2% of end stage renal disease in Europe and the United States. Alport syndrome is clinically and genetically heterogeneous. It is related to mutations in the genes encoding one of three chains, α3, α4 α5 of type IV collagen, the main component of basement membranes, expressed in the glomerular basement membrane...
November 2, 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27796712/female-x-linked-alport-syndrome-with-somatic-mosaicism
#5
Kana Yokota, Kandai Nozu, Shogo Minamikawa, Tomohiko Yamamura, Keita Nakanishi, Hisashi Kaneda, Riku Hamada, Yoshimi Nozu, Akemi Shono, Takeshi Ninchoji, Naoya Morisada, Shingo Ishimori, Junya Fujimura, Tomoko Horinouchi, Hiroshi Kaito, Koichi Nakanishi, Ichiro Morioka, Mariko Taniguchi-Ikeda, Kazumoto Iijima
BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies. In females, somatic mosaic variants are rarely reported in XLAS, and it is not clear what determines severity. METHODS: Two females with somatic mosaic mutations in COL4A5 with variant frequencies of 17...
October 31, 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/27678159/regardless-of-etiology-progressive-renal-disease-causes-ultrastructural-and-functional-alterations-of-peritubular-capillaries
#6
Janka Bábíčková, Barbara M Klinkhammer, Eva M Buhl, Sonja Djudjaj, Mareike Hoss, Felix Heymann, Frank Tacke, Jürgen Floege, Jan U Becker, Peter Boor
Progressive renal diseases are associated with rarefaction of peritubular capillaries, but the ultrastructural and functional alterations of the microvasculature are not well described. To study this, we analyzed different time points during progressive kidney damage and fibrosis in 3 murine models of different disease etiologies. These models were unilateral ureteral obstruction, unilateral ischemia-reperfusion injury, and Col4a3-deficient mice, we analyzed ultrastructural alterations in patient biopsy specimens...
September 24, 2016: Kidney International
https://www.readbyqxmd.com/read/27627812/x-linked-and-autosomal-recessive-alport-syndrome-pathogenic-variant-features-and-further-genotype-phenotype-correlations
#7
Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset...
2016: PloS One
https://www.readbyqxmd.com/read/27576055/collagen-iv-diseases-a-focus-on-the-glomerular-basement-membrane-in-alport-syndrome
#8
Dominic Cosgrove, Shiguang Liu
Alport syndrome is the result of mutations in any of three type IV collagen genes, COL4A3, COL4A4, or COL4A5. Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. In the glomerulus, the mature glomerular basement membrane type IV collagen network, normally comprised of two separate networks, α3(IV)/α4(IV)/α5(IV) and α1(IV)/α2(IV), is comprised entirely of collagen α1(IV)/α2. This review addresses the current state of our knowledge regarding the consequence of this change in basement membrane composition, including both the direct, via collagen receptor binding, and indirect, regarding influences on glomerular biomechanics...
August 27, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/27537263/investigating-the-molecular-basis-of-ppcd3-characterization-of-zeb1-regulation-of-col4a3-expression
#9
Duk-Won D Chung, Ricardo F Frausto, Stephan Chiu, Benjamin R Lin, Anthony J Aldave
PURPOSE: To investigate the role of the zinc finger e-box binding homeobox 1 (ZEB1) transcription factor in posterior polymorphous corneal dystrophy 3 by demonstrating its ability to regulate type IV collagen gene transcription via binding to putative E2 box motifs. METHODS: Putative E2 box motifs were identified by in silico analysis within the promoter region of collagen, type IV, alpha3 (COL4A3) and collagen, type IV, alpha4 (COL4A4). To test the ability of ZEB1 to bind to each identified E2 box, electrophoretic mobility shift assays were performed by incubating ZEB1-enriched nuclear extracts with DIG-labeled probes containing one of each of the identified E2 box motifs...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27488064/age-related-macular-degeneration-genetics-and-biology
#10
Govindasamy Kumaramanickavel
Age-related macular degeneration (AMD), widely prevalent across the globe, is a major stakeholder among adult visual morbidity and blindness, not only in the Western world but also in Asia. Several risk factors have been identified, including critical genetic factors, which were never imagined 2 decades ago. The etiopathogenesis is emerging to demonstrate that immune and complement-related inflammation pathway members chronically exposed to environmental insults could justifiably influence disease morbidity and treatment outcomes...
July 2016: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/27487163/increased-lung-expression-of-anti-angiogenic-factors-in-down-syndrome-potential-role-in-abnormal-lung-vascular-growth-and-the-risk-for-pulmonary-hypertension
#11
Csaba Galambos, Angela D Minic, Douglas Bush, Dominique Nguyen, Blair Dodson, Gregory Seedorf, Steven H Abman
BACKGROUND AND AIMS: Infants with Down syndrome (DS) or Trisomy 21, are at high risk for developing pulmonary arterial hypertension (PAH), but mechanisms that increase susceptibility are poorly understood. Laboratory studies have shown that early disruption of angiogenesis during development impairs vascular and alveolar growth and causes PAH. Human chromosome 21 encodes known anti-angiogenic factors, including collagen18a1 (endostatin, ES), ß-amyloid peptide (BAP) and Down Syndrome Critical Region 1 (DSCR-1)...
2016: PloS One
https://www.readbyqxmd.com/read/27469977/a-novel-heterozygous-col4a4-missense-mutation-in-a-chinese-family-with-focal-segmental-glomerulosclerosis
#12
Yuan Wu, Pengzhi Hu, Hongbo Xu, Jinzhong Yuan, Lamei Yuan, Wei Xiong, Xiong Deng, Hao Deng
Focal segmental glomerulosclerosis (FSGS) is the most common glomerular histological lesion associated with high-grade proteinuria and end-stage renal disease. Histologically, FSGS is characterized by focal segmental sclerosis with foot process effacement. The aim of this study was to identify the disease-causing mutation in a four-generation Chinese family with FSGS. A novel missense mutation, c.1856G>A (p.Gly619Asp), in the collagen type IV alpha-4 gene (COL4A4) was identified in six patients and it co-segregated with the disease in this family...
July 29, 2016: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/27461219/association-of-kidney-structure-related-gene-variants-with-type-2-diabetes-attributed-end-stage-kidney-disease-in-african-americans
#13
Meijian Guan, Jun Ma, Jacob M Keaton, Latchezar Dimitrov, Poorva Mudgal, Mary Stromberg, Jason A Bonomo, Pamela J Hicks, Barry I Freedman, Donald W Bowden, Maggie C Y Ng
African Americans (AAs) are at higher risk for developing end-stage kidney disease (ESKD) compared to European Americans. Genome-wide association studies have identified variants associated with diabetic and non-diabetic kidney diseases. Nephropathy loci, including SLC7A9, UMOD, and SHROOM3, have been implicated in the maintenance of normal glomerular and renal tubular structure and function. Herein, 47 genes important in podocyte, glomerular basement membrane, mesangial cell, mesangial matrix, renal tubular cell, and renal interstitium structure were examined for association with type 2 diabetes (T2D)-attributed ESKD in AAs...
November 2016: Human Genetics
https://www.readbyqxmd.com/read/27377778/col4a6-is-dispensable-for-autosomal-recessive-alport-syndrome
#14
Tomohiro Murata, Kan Katayama, Toshitaka Oohashi, Timo Jahnukainen, Tomoko Yonezawa, Yoshikazu Sado, Eiji Ishikawa, Shinsuke Nomura, Karl Tryggvason, Masaaki Ito
Alport syndrome is caused by mutations in the genes encoding α3, α4, or α5 (IV) chains. Unlike X-linked Alport mice, α5 and α6 (IV) chains are detected in the glomerular basement membrane of autosomal recessive Alport mice, however, the significance of this finding remains to be investigated. We therefore generated mice lacking both α3 and α6 (IV) chains and compared their renal function and survival with Col4a3 knockout mice of 129 × 1/Sv background. No significant difference was observed in the renal function or survival of the two groups, or when the mice were backcrossed once to C57BL/6 background...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27374918/the-expanding-phenotypic-spectra-of-kidney-diseases-insights-from-genetic-studies
#15
REVIEW
Marijn F Stokman, Kirsten Y Renkema, Rachel H Giles, Franz Schaefer, Nine V A M Knoers, Albertien M van Eerde
Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on clinical grounds, on genetic evidence or a combination thereof. Here, we discuss the major kidney disease-associated genes and gene categories for which NGS has expanded the phenotypic spectrum...
August 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27190376/a-novel-col4a1-frameshift-mutation-in-familial-kidney-disease-the-importance-of-the-c-terminal-nc1-domain-of-type-iv-collagen
#16
Daniel P Gale, D Deren Oygar, Fujun Lin, P Derin Oygar, Nadia Khan, Thomas M F Connor, Marta Lapsley, Patrick H Maxwell, Guy H Neild
BACKGROUND: Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts. METHODS: We used genome-wide linkage analysis, whole exome sequencing and cosegregation analyses. RESULTS: We identified a novel frameshift mutation, c.4611_4612insG:p.T1537fs, in exon 49 of COL4A1...
April 8, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27190345/advances-and-unmet-needs-in-genetic-basic-and-clinical-science-in-alport-syndrome-report-from-the-2015-international-workshop-on-alport-syndrome
#17
Oliver Gross, Clifford E Kashtan, Michelle N Rheault, Frances Flinter, Judith Savige, Jeffrey H Miner, Roser Torra, Elisabet Ars, Constantinos Deltas, Isavella Savva, Laura Perin, Alessandra Renieri, Francesca Ariani, Francesca Mari, Colin Baigent, Parminder Judge, Bertrand Knebelman, Laurence Heidet, Sharon Lagas, Dave Blatt, Jie Ding, Yanqin Zhang, Daniel P Gale, Marco Prunotto, Yong Xue, Asher D Schachter, Lori C G Morton, Jacqui Blem, Michael Huang, Shiguang Liu, Sebastien Vallee, Daniel Renault, Julia Schifter, Jules Skelding, Susie Gear, Tim Friede, A Neil Turner, Rachel Lennon
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies...
May 10, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27147675/albumin-contributes-to-kidney-disease-progression-in-alport-syndrome
#18
George Jarad, Russell H Knutsen, Robert P Mecham, Jeffrey H Miner
Alport syndrome is a familial kidney disease caused by defects in the collagen type IV network of the glomerular basement membrane. Lack of collagen-α3α4α5(IV) changes the glomerular basement membrane morphologically and functionally, rendering it leaky to albumin and other plasma proteins. Filtered albumin has been suggested to be a cause of the glomerular and tubular injuries observed at advanced stages of Alport syndrome. To directly investigate the role that albumin plays in the progression of disease in Alport syndrome, we generated albumin knockout (Alb(-/-)) mice to use as a tool for removing albuminuria as a component of kidney disease...
July 1, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27111861/brief-report-whole-exome-sequencing-for-identification-of-potential-causal-variants-for-diffuse-cutaneous-systemic-sclerosis
#19
Angel C Y Mak, Paul L F Tang, Clare Cleveland, Melanie H Smith, M Kari Connolly, Tamiko R Katsumoto, Paul J Wolters, Pui-Yan Kwok, Lindsey A Criswell
OBJECTIVE: Scleroderma is a genetically complex autoimmune disease with substantial phenotypic heterogeneity. Previous genome-wide association studies have identified common genetic variants associated with disease risk, but these studies are not designed to capture rare or potential causal variants. Our goal was to identify rare as well as common genetic variants in patients with diffuse cutaneous systemic sclerosis (dcSSc) through whole-exome sequencing (WES) in order to identify potential causal variants...
September 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27109140/protein-dj-1-and-its-anti-oxidative-stress-function-play-an-important-role-in-renal-cell-mediated-response-to-profibrotic-agents
#20
Marwa Eltoweissy, Gry H Dihazi, Gerhard A Müller, Abdul R Asif, Hassan Dihazi
In the pathogenesis of renal fibrosis, oxidative stress (OS) enhances the production of reactive oxygen species (ROS) leading to sustained cell growth, inflammation, excessive tissue remodelling and accumulation, which results in the development and acceleration of renal damage. In our previous work (Eltoweissy et al., 2011) we established protein DJ-1 (PARK7) as an important ROS scavenger and key player in renal cell response to OS. In the present study we investigated the impact of profibrogenic agonists on DJ-1 and shed light on the role of this protein in renal fibrosis...
May 24, 2016: Molecular BioSystems
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