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https://www.readbyqxmd.com/read/28096879/association-between-mitofusin-2-gene-polymorphisms-and-late-onset-alzheimer-s-disease-in-the-korean-population
#1
Young Jong Kim, Jin Kyung Park, Won Sub Kang, Su Kang Kim, Changsu Han, Hae Ri Na, Hae Jeong Park, Jong Woo Kim, Young Youl Kim, Moon Ho Park, Jong-Woo Paik
OBJECTIVE: Mitochondrial dysfunction is a prominent and early feature of Alzheimer's disease (AD). The morphologic changes observed in the AD brain could be caused by a failure of mitochondrial fusion mechanisms. The aim of this study was to investigate whether genetic polymorphisms of two genes involved in mitochondrial fusion mechanisms, optic atrophy 1 (OPA1) and mitofusin 2 (MFN2), were associated with AD in the Korean population by analyzing genotypes and allele frequencies. METHODS: One coding single nucleotide polymorphism (SNP) in the MFN2, rs1042837, and two coding SNPs in the OPA1, rs7624750 and rs9851685, were compared between 165 patients with AD (83 men and 82 women, mean age 72...
January 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28076385/the-effect-of-a-novel-c-820c-t-arg274trp-mutation-in-the-mitofusin-2-gene-on-fibroblast-metabolism-and-clinical-manifestation-in-a-patient
#2
Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction...
2017: PloS One
https://www.readbyqxmd.com/read/28076382/deregulated-expression-of-mitochondrial-proteins-mfn2-and-bcnl3l-in-placentae-from-sheep-somatic-cell-nuclear-transfer-scnt-conceptuses
#3
Marta Czernik, Paola Toschi, Federica Zacchini, Domenico Iuso, Grażyna Ewa Ptak
In various animal species, the main cause of pregnancy loss in conceptuses obtained by somatic cell nuclear transfer (SCNT) are placental abnormalities. Most abnormalities described in SCNT pregnancies (such as placentomegaly, reduced vascularisation, hypoplasia of trophoblastic epithelium) suggest that placental cell degeneration may be triggered by mitochondrial failure. We hypothesized that placental abnormalities of clones obtained by SCNT are related to mitochondrial dysfunction. To test this, early SCNT and control (CTR, from pregnancies obtained by in vitro fertilization) placentae were collected from pregnant ewes (at day 20 and 22 of gestation) and subjected to morphological, mRNA and protein analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#4
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/28057766/rapid-degradation-of-mutant-slc25a46-by-the-ubiquitin-proteasome-system-results-in-mfn1-2-mediated-hyperfusion-of-mitochondria
#5
Janos Steffen, Ajay A Vashisht, Jijun Wan, Joanna C Jen, Steven M Claypool, James A Wohlschlegel, Carla M Koehler
SCL25A46 is a member of the mitochondrial carrier protein that surprisingly localizes to the outer membrane and is distantly related to Ugo1. Here we show that a subset of SLC25A46 interacted with mitochondrial dynamics components and the MICOS complex. Decreased expression of SLC25A46 resulted in increased stability and oligomerization of MFN1 and MFN2 on mitochondria, promoting mitochondrial hyperfusion. A mutation at L341P caused rapid degradation of SLC25A46 that manifested as a rare disease, pontocerebellar hypoplasia...
January 5, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28053050/parkin-functionally-interacts-with-pgc-1%C3%AE-to-preserve-mitochondria-and-protect-dopaminergic-neurons
#6
Lu Zheng, Nathalie Bernard-Marissal, Norman Moullan, Davide D'Amico, Johan Auwerx, Darren J Moore, Graham Knott, Patrick Aebischer, Bernard L Schneider
To understand the cause of Parkinson's disease (PD), it is important to determine the functional interactions between factors linked to the disease. Parkin is associated to autosomal recessive early-onset PD, and controls the transcription of PGC-1α, a master regulator of mitochondrial biogenesis. These two factors functionally interact to regulate the turnover and quality of mitochondria, by increasing both mitophagic activity and mitochondria biogenesis. In cortical neurons, co-expressing PGC-1α and Parkin increases the number of mitochondria, enhances maximal respiration, and accelerates the recovery of the mitochondrial membrane potential following mitochondrial uncoupling...
January 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28013092/overexpression-of-mitofusin2-decreased-the-reactive-astrocytes-proliferation-in-vitro-induced-by-oxygen-glucose-deprivation-reoxygenation
#7
Yulong Shi, Chengla Yi, Xiao Li, Jiangpeng Wang, Fangyuan Zhou, Xiaoqian Chen
Glia scar is a hallmark in late-stage of brain stroke disease, which hinder axonal regeneration and neuronal repair. Mitofusin2 (Mfn2) is a newly found cellular proliferation inhibitor. This study is to elucidate the role of Mfn2 in reactive astrocytes induced by oxygen-glucose deprivation/reoxygenation(OGD/R) model in vitro. Up-expression in EdU staining and protein level of GFAP, PCNA and CyclinD1, demonstrates the distinct activation and proliferation of astrocytes after the stimulation of OGD/R. Meanwhile, Mfn2 was proved to be down-regulated both in gene and protein levels...
December 22, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27997345/mitofusin-2-attenuates-the-histone-acetylation-at-collagen-iv-promoter-in-diabetic-nephropathy
#8
Xuhua Mi, Wanxin Tang, Xiaolei Chen, Fei Liu, Xiaohong Tang
Extracellular matrix (ECM) increase in diabetic nephropathy (DN) is closely related to mitochondrial dysfunction. The mechanism of protective function of mitofusin 2 (Mfn2) for mitochondria remains largely unknown. In this study, the molecular mechanisms for the effect of Mfn2 on mitochondria and subsequent collagen IV expression in DN were investigated. Ras-binding-deficient mitofusin 2 (Mfn2-Ras(Δ)) were overexpressed in rat glomerular mesangial cells, and then the cells were detected for mitochondrial morphology, cellular reactive oxygen species (ROS), mRNA and protein expression of collagen IV with advanced glycation end-product (AGE) stimulation...
November 2016: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/27907123/mice-hemizygous-for-a-pathogenic-mitofusin-2-allele-exhibit-hind-limb-foot-gait-deficits-and-phenotypic-perturbations-in-nerve-and-muscle
#9
Peter Bannerman, Travis Burns, Jie Xu, Laird Miers, David Pleasure
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged mitochondria, efficient mitochondrial energetics, regulation of mitochondrial-endoplasmic reticulum calcium coupling and axonal transport of mitochondria. We knocked T105M MFN2 preceded by a loxP-flanked STOP sequence into the mouse Rosa26 locus to permit cell type-specific expression of this pathogenic allele...
2016: PloS One
https://www.readbyqxmd.com/read/27895764/mitofusin-2-prevents-skeletal-muscle-wasting-in-cancer-cachexia
#10
Qiu-Lei Xi, Bo Zhang, Yi Jiang, Hai-Sheng Zhang, Qing-Yang Meng, Ying Chen, Yu-Song Han, Qiu-Lin Zhuang, Jun Han, Hai-Yu Wang, Jing Fang, Guo-Hao Wu
Cancer cachexia remains a leading cause of morbidity and mortality worldwide, despite extensive research and clinical trials. The prominent clinical feature of cancer cachexia is the continuous loss of skeletal muscle that cannot be fully reversed by conventional nutritional support, and that leads to progressive functional impairment. The mechanism underlying muscle loss in patients with cachexia is poorly understood. The present study analyzed 21 cancer patients with or without cachexia, and demonstrated that mitofusin-2 (Mfn2) was downregulated in the rectus abdominis of patients with cachexia, which was associated with body weight loss...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27862672/clinical-and-genetic-spectra-of-charcot-marie-tooth-disease-in-chinese-han-patients
#11
Bo Sun, Zhaohui Chen, Li Ling, Fei Yang, Xusheng Huang
Charcot-Marie-Tooth disease (CMT) is a common hereditary motor and sensory neuropathy. Epidemiological data for Chinese CMT patients are few. This study aimed to analyze the electrophysiological and genetic characteristics of Chinese Han patients. 106 unrelated patients with the clinical diagnosis of CMT were included. Clinical examination, nerve conduction studies (NCS), next-generation sequencing (NGS), and bioinformatic analyses were performed. Genetic testing was performed for 82 patients; 27 (33%) patients carried known CMT-associated gene mutations...
November 8, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27847330/altered-mitochondrial-quality-control-signaling-in-muscle-of-old-gastric-cancer-patients-with-cachexia
#12
Emanuele Marzetti, Maria Lorenzi, Francesco Landi, Anna Picca, Fausto Rosa, Fabiana Tanganelli, Marco Galli, Giovanni Battista Doglietto, Fabio Pacelli, Matteo Cesari, Roberto Bernabei, Riccardo Calvani, Maurizio Bossola
Mitochondrial dysfunction is involved in the loss of muscle featuring both aging and cancer cachexia (CC). Whether mitochondrial quality control (MQC) is altered in skeletal myocytes of old patients with CC is unclear. The present investigation therefore sought to preliminarily characterize MQC pathways in muscle of old gastric cancer patients with cachexia. The study followed a case-control cross-sectional design. Intraoperative biopsies of the rectus abdominis muscle were obtained from 18 patients with gastric adenocarcinoma (nine with CC and nine non-cachectic) and nine controls, and assayed for the expression of a set of MQC mediators...
January 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/27847271/oleuropein-improves-mitochondrial-function-to-attenuate-oxidative-stress-by-activating-the-nrf2-pathway-in-the-hypothalamic-paraventricular-nucleus-of-spontaneously-hypertensive-rats
#13
Wenyan Sun, Xin Wang, Chen Hou, Liang Yang, Hongbao Li, Jing Guo, Chanjuan Huo, Molin Wang, Yuwang Miao, Jiankang Liu, Yuming Kang
Hypertension is associated with increased reactive oxygen species (ROS) production in the paraventricular nucleus (PVN) of the hypothalamus. Oleuropein (OL) has a variety of biochemical roles, including antihypertensive and antioxidative functions. However, there have been few reports on the effects of OL on oxidative stress in the PVN on hypertension. In spontaneously hypertensive rats (SHR), eight-week administration of 60 mg/kg/day of OL significantly reduced blood pressure, pro-inflammatory cytokines and the expression of components of the renin-angiotensin system (RAS) compared with SHR rats treated with saline...
February 2017: Neuropharmacology
https://www.readbyqxmd.com/read/27837193/intact-initiation-of-autophagy-and-mitochondrial-fission-by-acute-exercise-in-skeletal-muscle-of-patients-with-type%C3%A2-2-diabetes
#14
Rikke Kruse, Andreas J T Pedersen, Jonas M Kristensen, Stine J Petersson, Jørgen F P Wojtaszewski, Kurt Højlund
Type 2 diabetes (T2D) is characterized by insulin resistance, mitochondrial dysregulation and, in some studies, exercise resistance in skeletal muscle. Regulation of autophagy and mitochondrial dynamics during exercise and recovery is important for skeletal muscle homoeostasis, and these responses may be altered in T2D. We examined the effect of acute exercise on markers of autophagy and mitochondrial fusion and fission in skeletal muscle biopsies from patients with T2D (n=13) and weight-matched controls (n=14) before, immediately after and 3 h after an acute bout of exercise...
January 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/27833818/sevoflurane-postconditioning-attenuates-cardiomyocyte-hypoxia-reoxygenation-injury-via-restoring-mitochondrial-morphology
#15
Jin Yu, Jianjiang Wu, Peng Xie, Yiliyaer Maimaitili, Jiang Wang, Zhengyuan Xia, Feng Gao, Xing Zhang, Hong Zheng
BACKGROUND: Anesthetic postconditioning is a cellular protective approach whereby exposure to a volatile anesthetic renders a tissue more resistant to subsequent ischemic/reperfusion event. Sevoflurane postconditioning (SPostC) has been shown to exert cardioprotection against ischemia/reperfusion injury, but the underlying mechanism is unclear. We hypothesized that SPostC protects cardiomyocytes against hypoxia/reoxygenation (H/R) injury by maintaining/restoring mitochondrial morphological integrity, a critical determinant of cell fate...
2016: PeerJ
https://www.readbyqxmd.com/read/27830717/effect-of-heme-oxygenase-1-on-mitofusin-1-protein-in-lps-induced-ali-ards-in-rats
#16
Jianbo Yu, Ying Wang, Zhen Li, Shuan Dong, Dan Wang, Lirong Gong, Jia Shi, Yuan Zhang, Daquan Liu, Rui Mu
Acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) is a common and important oxidative stress in the lung. Mitochondrial fusion responds to the normal morphology and function of cells and is finely regulated by mitochondrial fusion proteins, such as mitofusin-1 protein (Mfn1), mitofusin-2 protein (Mfn2) and optical atrophy 1 (OPA1). Additionally, Mfn1 has been identified as the most important protein in mitochondrial fusion. Heme oxygenase-1 (HO-1) is a stress-inducible protein that plays a critical role in protecting against oxidative stress...
November 10, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27822413/mir-106b-mediated-mfn2-suppression-is-critical-for-pkm2-induced-mitochondrial-fusion
#17
Haili Wu, Zhuoyu Li, Yingying Wang, Peng Yang, Zongrui Li, Hanqing Li, Changxin Wu
Cancer cells preferentially metabolize glucose through aerobic glycolysis. This phenomenon, known as the Warburg effect, is a characteristic of glucose metabolism in cancer cells. PKM2 is reported to imply an important role in glycolysis. However, whether and how PKM2 can cause mitochondrial dysfunction, then subsequently forcing cancer cells using glycolysis instead of oxidation phosphorylation is poorly understood. Here we reported that overexpression of PKM2 disrupted mitochondrial dynamics by enhancing fusion...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27706887/increased-mitochondrial-fusion-in-a-autosomal-recessive-cmt2a-family-with-mitochondrial-gtpase-mitofusin-2-mutations
#18
Philippe Codron, Arnaud Chevrollier, Mariame S Kane, Andoni Echaniz-Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early-onset autosomal recessive CMT2A (AR-CMT2A) have been reported in recent years. In this study, we characterized the structure of the mitochondrial network in cultured primary fibroblasts obtained from AR-CMT2A family members. The patient-derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27693395/mir-195-dependent-roles-of-mitofusin2-in-the-mitochondrial-dysfunction-of-hippocampal-neurons-in-samp8-mice
#19
Rui Zhang, Huimin Zhou, Lei Jiang, Yueran Mao, Ximing Cui, Bing Xie, Dongsheng Cui, Hui Wang, Qingfu Zhang, Shunjiang Xu
Abnormal gene expression, including mRNAs, and microRNAs (miRNA), have been identified in the development of Alzheimer's disease (AD). Although mitofusin2 (mfn2) has been found to be down-regulated in the neurons from hippocampus and cortex in AD patients, little is known about its roles and the regulatory mechanisms in the pathogenesis of AD. This study was performed to investigate the roles of mfn2 protein and its upstream regulatory mechanism in the progression of AD using a senescence accelerated mouse prone-8 (SAMP8) model...
September 29, 2016: Brain Research
https://www.readbyqxmd.com/read/27684054/high-glucose-concentration-abrogates-sevoflurane-postconditioning-cardioprotection-by-advancing-mitochondrial-fission-but-dynamin-related-protein-1-inhibitor-restores-these-effects
#20
Jin Yu, Yiliyaer Maimaitili, Peng Xie, Jianjiang Wu, Jiang Wang, Yining Yang, Haiping Ma, Hong Zheng
AIM: Hyperglycaemia-induced cell injury is a primary cause of cardiovascular complications in diabetic patients. In vivo studies demonstrated that sevoflurane postconditioning (SpostC) was cardioprotective against ischaemia/reperfusion injury, which was blocked by hyperglycaemia. This study investigated whether high glucose concentration abrogated SpostC cardioprotection in vitro by advancing mitochondrial fission and whether mitochondrial division inhibitor-1 (Mdivi-1) restored SpostC cardioprotection in cultured primary neonatal rat cardiomyocytes (NCMs)...
September 29, 2016: Acta Physiologica
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