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diabetic nephropathy genetic

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https://www.readbyqxmd.com/read/29027595/carnosinase-diabetes-mellitus-and-the-potential-relevance-of-carnosinase-deficiency
#1
REVIEW
Verena Peters, Johannes Zschocke, Claus P Schmitt
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine. Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical symptoms in these individuals is causally related to carnosinase deficiency. Reduced CN1 function should increase serum carnosine concentrations but the genetic basis of carnosinaemia has not been formally confirmed to be due to CNDP1 mutations...
October 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28976905/endothelin-1-gene-polymorphisms-rs5370-rs1476046-and-rs3087459-are-not-associated-with-diabetic-nephropathy-in-caucasians-with-type-2-diabetes-mellitus
#2
Maja Šeruga, Stojan Kariž, Jana Makuc, Matej Završnik, Ines Cilenšek, Katarina Gazdikova, Martin Caprnda, Peter Kruzliak, Daniel Petrovič
BACKGROUND: Diabetic nephropathy (DN) is a major microvascular complication of type 2 diabetes mellitus (T2DM). Several lines of evidence implicate the endothelin (ET) system in the pathophysiology of DN. The aim of the present study was to analyze if genetic polymorphisms of the ET-1 (EDN1) gene affect susceptibility to DN in Caucasians with T2DM. MATERIALS AND METHODS: The study population consisted of 651 Caucasian subjects with T2DM of more than 10 years' duration: 276 patients with DN (cases) and 375 patients without evidence of DN (controls)...
September 1, 2017: Folia Medica
https://www.readbyqxmd.com/read/28970584/endoplasmic-reticulum-stress-the-unfolded-protein-response-and-autophagy-in-kidney-diseases
#3
REVIEW
Andrey V Cybulsky
Progress has been made in our understanding of the mechanisms of endoplasmic reticulum (ER) proteostasis, ER stress and the unfolded protein response (UPR), as well as ER stress-induced autophagy, in the kidney. Experimental models have revealed that disruption of the UPR, including a protein that senses misfolded proteins (namely, inositol-requiring enzyme 1α) in mouse podocytes causes podocyte injury and albuminuria as mice age. Protein misfolding and ER stress are evident in various renal diseases, including primary glomerulonephritides, glomerulopathies associated with genetic mutations, diabetic nephropathy, acute kidney injury, chronic kidney disease and renal fibrosis...
October 3, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28962177/high-mobility-group-box-1-in-diabetic-nephropathy
#4
Haitao Shi, Yingqi Che, Lin Bai, Jinling Zhang, Jingxu Fan, Huiling Mao
Type 2 diabetes (T2D) is a complex disorder caused by the combined effects of genetic inheritance and environmental factors. The abnormal secretion of albumin via urine is the characteristic feature of a diabetic nephropathy (DN) patient. Moreover, the detection of this observable characteristic feature of DN is quite late. As a result the time, at which DN is observable, large extent of kidney damage has already occurred. Thus, this late observation significantly decreases the chances of efficient management of DN and associated outcomes...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28937055/association-between-apolipoprotein-e-polymorphism-and-nephropathy-in-iranian-diabetic-patients
#5
Mostafa Karimoei, Parvin Pasalar, Mohsen Mehrabzadeh, Maryam Daneshpour, Maryam Shojaee, Katayoun Forouzanfar, Farideh Razi
Approximately one-third of diabetic patients develop evidence of nephropathy. Pathogenesis of diabetic nephropathy (DN) remains unclear; however, some genetic and metabolic risk factors have been determined for the development and progression of DN. In the recent genetic studies, polymorphism of apolipoprotein E (ApoE) gene has been reported as a risk factor for the development of DN; however, the results are inconsistent. The aim of the present study was to evaluate the association between ApoE polymorphism and nephropathy in Iranian patient with type 2 diabetes...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28925940/zebrafish-as-a-model-for-the-study-of-microvascular-complications-of-diabetes-and-their-mechanisms
#6
REVIEW
Karl Heckler, Jens Kroll
Diabetes mellitus (DM) is a crucial metabolic disease that leads to severe disorders. These include macrovascular complications such as myocardial infarction, stroke, and peripheral artery disease and microvascular complications including diabetic nephropathy, neuropathy, and retinopathy. Diabetes mellitus, along with its associated organ pathologies, is one of the key problems in today's medicine. Zebrafish is an upcoming disease model organism in diabetes research. Its glucose metabolism and the pathways of reactive metabolite formation are very similar to those of humans...
September 19, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28890661/association-of-angiotensin-converting-enzyme-gene-polymorphisms-and-nephropathy-in-diabetic-patients-at-a-tertiary-care-centre-in-south-india
#7
Mukta Wyawahare, Revathy Neelamegam, Saranya Vilvanathan, R Soundravally, A K Das, C Adithan
BACKGROUND: Genetic polymorphisms of the angiotensin-renin pathway have been thought to influence the development of diabetic nephropathy. However, there are conflicting results regarding this association in previous studies on populations with varying ethnicity. AIMS: Primary aim was to compare the frequency of distribution of angiotensin-converting enzyme (ACE) gene (insertion/deletion [I/D]) polymorphism in Tamilian Indian type 2 diabetic individuals with and without microalbuminuria...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28871454/non-genetic-mechanisms-of-diabetic-nephropathy
#8
REVIEW
Qiuxia Han, Hanyu Zhu, Xiangmei Chen, Zhangsuo Liu
Diabetic nephropathy (DN) is one of the most common microvascular complications in diabetes mellitus patients and is characterized by thickened glomerular basement membrane, increased extracellular matrix formation, and podocyte loss. These phenomena lead to proteinuria and altered glomerular filtration rate, that is, the rate initially increases but progressively decreases. DN has become the leading cause of end-stage renal disease. Its prevalence shows a rapid growth trend and causes heavy social and economic burden in many countries...
September 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28869129/-characteristics-and-cardiovascular-events-in-a-general-population-included-in-the-ricarto-riesgo-cardiovascular-toledo-study-data-from-the-first-1-500-individuals-included-in-the-study
#9
G C Rodríguez-Roca, A Segura-Fragoso, A Villarín-Castro, F J Alonso-Moreno, L Rodríguez-Padial, M L Rodríguez-García, J A Fernández-Conde, G A Rojas-Martelo, A Menchén-Herreros, C Escobar-Cervantes, J Fernández-Martín, L M Artigao-Rodenas, J A Carbayo-Herencia, J Hernández-Moreno
INTRODUCTION: The aim of this study was to assess cardiovascular risk (CVR) by investigating the prevalence of CVR factors (CVRF), target organ damage (TOD), and cardiovascular disease (CVD) in general population of the health area of Toledo, Spain. MATERIAL AND METHODS: Epidemiological and observational study that analysed a sample from the general population aged 18years or older, randomly selected from a database of health cards stratified by age and gender. Clinical history, physical examination, and complementary tests were performed...
August 28, 2017: Semergen
https://www.readbyqxmd.com/read/28860538/sirt1-rs10823108-and-foxo1-rs17446614-responsible-for-genetic-susceptibility-to-diabetic-nephropathy
#10
Yanyan Zhao, Junfang Wei, Xuefeng Hou, Huimiao Liu, Feng Guo, Yingni Zhou, Yuanyuan Zhang, Yunhui Qu, Junfei Gu, Yuanli Zhou, Xiaobin Jia, Guijun Qin, Liang Feng
SIRT1 and FOXO1 play an important role in the pathogenesis of diabetic nephropathy (DN). However, the association between genetic polymorphisms and susceptibility to type 2 DN (T2DN) has not been explored. In this study, a total of 1066 patients with type 2 diabetes mellitus (T2DM) (413 without and 653 with DN) were enrolled. The genotypes of three htSNPs (rs3818292, rs4746720, rs10823108) within SIRT1 and two htSNPs (rs2721068, rs17446614) in FOXO1 were determined by PCR-RFLP. HbA1C, LDL, HDL, TC, and TG levels were also examined...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811618/assessment-of-the-role-of-ageing-and-non-ageing-factors-in-death-from-non-communicable-diseases-based-on-a-cumulative-frequency-model
#11
Liu Hui
To quantify the effects of ageing and non-ageing factors, a characterization of the effects of ageing, genetic, and exogenous variables on 12 major non-communicable diseases was evaluated using a model assessing cumulative frequency of death and survival by age group from dead and surviving populations based on mortality statistics. Indices (0-1) of the roles of ageing (ARD), genetics (GRD) and exogenous (ERD) variables in deaths due to disease were established, and the sum of ARD, GRD and ERD was 1 (value of each indices was <1)...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28760771/diabetic-nephropathy-is-this-an-immune-disorder
#12
REVIEW
Greg H Tesch
Chronic diabetes is associated with metabolic and haemodynamic stresses which can facilitate modifications to DNA, proteins and lipids, induce cellular dysfunction and damage, and stimulate inflammatory and fibrotic responses which lead to various types of renal injury. Approximately 30-40% of patients with diabetes develop nephropathy and this renal injury normally progresses in about a third of patients. Due to the growing incidence of diabetes, diabetic nephropathy is now the main cause of end-stage renal disease (ESRD) worldwide...
August 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28754553/real-time-in%C3%A2-vivo-mitochondrial-redox-assessment-confirms-enhanced-mitochondrial-reactive-oxygen-species-in-diabetic-nephropathy
#13
Daniel L Galvan, Shawn S Badal, Jianyin Long, Benny H Chang, Paul T Schumacker, Paul A Overbeek, Farhad R Danesh
While increased mitochondrial reactive oxygen species have been commonly implicated in a variety of disease states, their in vivo role in the pathogenesis of diabetic nephropathy remains controversial. Using a two-photon imaging approach with a genetically encoded redox biosensor, we monitored mitochondrial redox state in the kidneys of experimental models of diabetes in real-time in vivo. Diabetic (db/db) mice that express a redox-sensitive Green Fluorescent Protein biosensor (roGFP) specifically in the mitochondrial matrix (db/dbmt-roGFP) were generated, allowing dynamic monitoring of redox changes in the kidneys...
July 26, 2017: Kidney International
https://www.readbyqxmd.com/read/28685101/end-stage-kidney-failure-in-oman-an-analysis-of-registry-data-with-an-emphasis-on-congenital-and-inherited-renal-diseases
#14
Intisar Al Alawi, Issa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John A Sayer
Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes and inherited kidney disease. All newly registered Omani patients with ESKD commencing RRT from 2001 until 2015 (n = 2,922) were analysed using the RRT register in Oman. All potentially genetic or inherited causes of ESKD were reviewed. In Oman, ESKD is more prevalent in males (57...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28680642/long-lasting-response-to-oral-therapy-in-a-young-male-with-monogenic-diabetes-as-part-of-hnf1b-related-disease
#15
Elena Carrillo, Amparo Lomas, Pedro J Pinés, Cristina Lamas
Mutations in hepatocyte nuclear factor 1β gene (HNF1B) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28667063/translational-science-in-chronic-kidney-disease
#16
REVIEW
Maria Dolores Sanchez-Niño, Ana B Sanz, Adrian M Ramos, Marta Ruiz-Ortega, Alberto Ortiz
The KDIGO definition of chronic kidney disease (CKD) allowed a more detailed characterization of CKD causes, epidemiology and consequences. The picture that has emerged is worrisome from the point of view of translation. CKD was among the fastest growing causes of death in the past 20 years in age-adjusted terms. The gap between recent advances and the growing worldwide mortality appears to result from sequential roadblocks that limit the flow from basic research to clinical development (translational research type 1, T1), from clinical development to clinical practice (translational research T2) and result in deficient widespread worldwide implementation of already available medical advances (translational research T3)...
July 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28651212/ar-c-106t-gene-polymorphism-and-diabetic-nephropathy-in-the-eastern-asians-with-t2dm-a-meta-analysis-including-2120-subjects
#17
Yan-Yan Li, Hui Wang, Xin-Xing Yang, Hong-Yu Geng, Ge Gong, Xin-Zheng Lu
BACKGROUND: Aldose reductase (AR) gene C-106T polymorphism may be associated with diabetic nephropathy (DN) susceptibility, but the results of individual studies remain controversial. OBJECTIVE AND METHODS: To explore the relationship between AR gene C-106T gene polymorphism and DN in the Eastern Asians with type 2 diabetes mellitus (T2DM) population, we conducted a meta-analysis of 2120 participants from 5 studies. Pooled odds ratio (ORs) and the corresponding 95% confidence interval (95% CI) were evaluated by either a fixed or random-effects models...
June 15, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28649285/introduction-of-the-diagene-study-clinical-characteristics-pathophysiology-and-determinants-of-vascular-complications-of-type-2-diabetes
#18
Thijs T W van Herpt, Roosmarijn F H Lemmers, Mandy van Hoek, Janneke G Langendonk, Ronald J Erdtsieck, Bert Bravenboer, Annelies Lucas, Monique T Mulder, Harm R Haak, Aloysius G Lieverse, Eric J G Sijbrands
BACKGROUND: Type 2 diabetes is a major healthcare problem. Glucose-, lipid-, and blood pressure-lowering strategies decrease the risk of micro- and macrovascular complications. However, a substantial residual risk remains. To unravel the etiology of type 2 diabetes and its complications, large-scale, well-phenotyped studies with prospective follow-up are needed. This is the goal of the DiaGene study. In this manuscript, we describe the design and baseline characteristics of the study...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28646406/podocytes-and-the-quest-for-precision-medicines-for-kidney-diseases
#19
REVIEW
Peter Mundel
In this review, I describe a 30-year journey in the quest for precision medicines for patients with kidney diseases. In 1987, when I started my reseach career, most scientists studying glomerular disease biology were focused on mesangial cells. The crucial role of the podocyte in many kidney diseases characterized by proteinuria, including focal segmental glomerulosclerosis (FSGS) and diabetic nephropathy, had not yet been recognized. We were not aware of genetic causes or drivers of kidney diseases nor of molecular markers and cell culture systems for mechanistic studies of podocyte biology...
August 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28643424/mdm2-is-implicated-in-high-glucose-induced-podocyte-mitotic-catastrophe-via-notch1-signalling
#20
Hui Tang, Chun-Tao Lei, Chen Ye, Pan Gao, Cheng Wan, Shan Chen, Fang-Fang He, Yu-Mei Wang, Hua Su, Chun Zhang
Podocyte injury and depletion are essential events involved in the pathogenesis of diabetic nephropathy (DN). As a terminally differentiated cell, podocyte is restricted in 'post-mitosis' state and unable to regenerate. Re-entering mitotic phase will cause podocyte disastrous death which is defined as mitotic catastrophe (MC). Murine double minute 2 (MDM2), a cell cycle regulator, is widely expressed in renal resident cells including podocytes. Here, we explore whether MDM2 is involved in podocyte MC during hyperglycaemia...
June 23, 2017: Journal of Cellular and Molecular Medicine
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