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Mitochondrial disease complex I

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https://www.readbyqxmd.com/read/29142257/using-a-quantitative-quadruple-immunofluorescent-assay-to-diagnose-isolated-mitochondrial-complex-i-deficiency
#1
Syeda T Ahmed, Charlotte L Alston, Sila Hopton, Langping He, Iain P Hargreaves, Gavin Falkous, Monika Oláhová, Robert McFarland, Doug M Turnbull, Mariana C Rocha, Robert W Taylor
Isolated Complex I (CI) deficiency is the most commonly observed mitochondrial respiratory chain biochemical defect, affecting the largest OXPHOS component. CI is genetically heterogeneous; pathogenic variants affect one of 38 nuclear-encoded subunits, 7 mitochondrial DNA (mtDNA)-encoded subunits or 14 known CI assembly factors. The laboratory diagnosis relies on the spectrophotometric assay of enzyme activity in mitochondrially-enriched tissue homogenates, requiring at least 50 mg skeletal muscle, as there is no reliable histochemical method for assessing CI activity directly in tissue cryosections...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138117/melatonin-protects-against-behavioral-deficits-dopamine-loss-and-oxidative-stress-in-homocysteine-model-of-parkinson-s-disease
#2
Rajib Paul, Banashree Chetia Phukan, Arokiasamy Justin Thenmozhi, Thamilarasan Manivasagam, Pallab Bhattacharya, Anupom Borah
AIM: Hyperhomocysteinemia and homocysteine (Hcy) mediated dopaminergic neurotoxicity is a matter of concern in the pathophysiology of Parkinson's disease (PD). Our previous study established the involvement of oxidative stress in the substantia nigra (SN) of Hcy rat model of PD; however, the role of antioxidants, such as melatonin, was not tested in this model. MAIN METHODS: Melatonin (10, 20 and 30mg/kg, i.p.) was administered to rats injected with Hcy in right SN (1...
November 11, 2017: Life Sciences
https://www.readbyqxmd.com/read/29127580/sigma-1-receptor-agonists-induce-oxidative-stress-in-mitochondria-and-enhance-complex-i-activity-in-physiological-condition-but-protect-against-pathological-oxidative-stress
#3
Nino Goguadze, Elene Zhuravliova, Didier Morin, Davit Mikeladze, Tangui Maurice
The sigma1 receptor (σ1R) is a chaperone protein residing at mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), where it modulates Ca(2+) exchange between the ER and mitochondria by interacting with inositol-1,4,5 trisphosphate receptors (IP3Rs). The σ1R is highly expressed in the central nervous system and its activation stimulates neuromodulation and neuroprotection, for instance in Alzheimer's disease (AD) models in vitro and in vivo. σ1R effects on mitochondria pathophysiology and the downstream signaling are still not fully understood...
November 10, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/29123192/targeted-mitochondrial-therapy-using-mitoq-shows-equivalent-renoprotection-to-angiotensin-converting-enzyme-inhibition-but-no-combined-synergy-in-diabetes
#4
Micheal S Ward, Nicole B Flemming, Linda A Gallo, Amelia K Fotheringham, Domenica A McCarthy, Aowen Zhuang, Peter H Tang, Danielle J Borg, Hannah Shaw, Benjamin Harvie, David R Briskey, Llion A Roberts, Manuel R Plan, Michael P Murphy, Mark P Hodson, Josephine M Forbes
Mitochondrial dysfunction is a pathological mediator of diabetic kidney disease (DKD). Our objective was to test the mitochondrially targeted agent, MitoQ, alone and in combination with first line therapy for DKD. Intervention therapies (i) vehicle (D); (ii) MitoQ (DMitoQ;0.6 mg/kg/day); (iii) Ramipril (DRam;3 mg/kg/day) or (iv) combination (DCoAd) were administered to male diabetic db/db mice for 12 weeks (n = 11-13/group). Non-diabetic (C) db/m mice were followed concurrently. No therapy altered glycaemic control or body weight...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29121267/loss-of-chchd10-chchd2-complexes-required-for-respiration-underlies-the-pathogenicity-of-a-chchd10-mutation-in-als
#5
Isabella R Straub, Alexander Janer, Woranontee Weraarpachai, Lorne Zinman, Janice Robertson, Ekaterina Rogaeva, Eric A Shoubridge
CHCHD10 and its paralogue CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the intermembrane space of mitochondria. Dominant mutations in CHCHD10 cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD), and mutations in CHCHD2 have been associated with Parkinson's disease, but the function of these proteins remains unknown. Here we show that the p.R15L CHCHD10 variant in ALS patient fibroblasts destabilizes the protein, leading to a defect in the assembly of complex I, impaired cellular respiration, mitochondrial hyperfusion, an increase in the steady-state level of CHCHD2, and a severe proliferation defect on galactose, a substrate that forces cells to synthesize virtually all of their ATP aerobically...
November 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29117258/lung-epithelial-response-to-cigarette-smoke-and-modulation-by-the-nicotinic-alpha-7-receptor
#6
Lorise C Gahring, Elizabeth J Myers, Diane M Dunn, Robert B Weiss, Scott W Rogers
Cigarette smoking (CS) is a principal contributor to a spectrum of devastating lung diseases whose occurrence and severity may vary between individuals and not appear for decades after prolonged use. One explanation for the variability and delay in disease onset is that nicotine, the addictive component of CS, acts through the ionotropic nicotinic acetylcholine receptor (nAChR) alpha7 (α7) to modulate anti-inflammatory protection. In this study we measured the impact α7 signaling has on the mouse distal lung response to side-stream CS exposure for mice of the control genotype (α7G) and those in which the α7-receptor signaling mechanisms are restricted by point mutation (α7E260A:G)...
2017: PloS One
https://www.readbyqxmd.com/read/29116953/identification-of-an-nd4-mutation-in-leber-hereditary-optic-neuropathy
#7
Qian Lu, Yi Guo, Junhui Yi, Xiong Deng, Zhijian Yang, Xiuhong Yuan, Hao Deng
SIGNIFICANCE: We identified a missense mutation, m.11778G>A (p.R340H), in the mitochondrially encoded NADH dehydrogenase 4 gene (ND4) in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. These results have implications for the families' genetic counseling and clinical management. PURPOSE: Leber hereditary optic neuropathy (LHON OMIM 535000) is one of the most common inherited optic neuropathies...
November 8, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29108286/park14-pla2g6-mutants-are-defective-in-preventing-rotenone-induced-mitochondrial-dysfunction-ros-generation-and-activation-of-mitochondrial-apoptotic-pathway
#8
Ching-Chi Chiu, Tu-Hsueh Yeh, Chin-Song Lu, Yin-Cheng Huang, Yi-Chuan Cheng, Ying-Zu Huang, Yi-Hsin Weng, Yu-Chuan Liu, Szu-Chia Lai, Ying-Ling Chen, Yu-Jie Chen, Chao-Lang Chen, Hsin-Yi Chen, Yan-Wei Lin, Hung-Li Wang
Mutations in the gene encoding Ca(2+)-independent phospholipase A2 group 6 (PLA2G6) cause the recessive familial type 14 of Parkinson's disease (PARK14). Mitochondrial dysfunction is involved in the pathogenesis of Parkinson's disease (PD). PLA2G6 is believed to be required for maintaining mitochondrial function. In the present study, rotenone-induced cellular model of PD was used to investigate possible molecular pathogenic mechanism of PARK14 mutant PLA2G6-induced PD. Overexpression of wild-type (WT) PLA2G6 ameliorated rotenone-induced apoptotic death of SH-SY5Y dopaminergic cells...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29103922/17%C3%AE-estradiol-directly-lowers-mitochondrial-membrane-microviscosity-and-improves-bioenergetic-function-in-skeletal-muscle
#9
Maria J Torres, Kim A Kew, Terence E Ryan, Edward Ross Pennington, Chien-Te Lin, Katherine A Buddo, Amy M Fix, Cheryl A Smith, Laura A Gilliam, Sira Karvinen, Dawn A Lowe, Espen E Spangenburg, Tonya N Zeczycki, Saame Raza Shaikh, P Darrell Neufer
Menopause results in a progressive decline in 17β-estradiol (E2) levels, increased adiposity, decreased insulin sensitivity, and a higher risk for type 2 diabetes. Estrogen therapies can help reverse these effects, but the mechanism(s) by which E2 modulates susceptibility to metabolic disease is not well understood. In young C57BL/6N mice, short-term ovariectomy decreased-whereas E2 therapy restored-mitochondrial respiratory function, cellular redox state (GSH/GSSG), and insulin sensitivity in skeletal muscle...
November 1, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/29101127/phenotype-genotype-correlations-in-leigh-syndrome-new-insights-from-a-multicentre-study-of-96-patients
#10
Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Tuula Lönnqvist, Laurence Albert Bindoff, Már Tulinius, Niklas Darin
BACKGROUND: Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype correlations in Leigh syndrome are not fully explored. OBJECTIVE: We aimed to identify phenotype-genotype correlations in Leigh syndrome in a large cohort of systematically evaluated patients. METHODS: We studied 96 patients with genetically confirmed Leigh syndrome diagnosed and followed in eight European centres specialising in mitochondrial diseases...
November 3, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29078798/proteomic-profiling-of-neuronal-mitochondria-reveals-modulators-of-synaptic-architecture
#11
Laura C Graham, Samantha L Eaton, Paula J Brunton, Abdelmadjid Atrih, Colin Smith, Douglas J Lamont, Thomas H Gillingwater, Giuseppa Pennetta, Paul Skehel, Thomas M Wishart
BACKGROUND: Neurons are highly polarized cells consisting of three distinct functional domains: the cell body (and associated dendrites), the axon and the synapse. Previously, it was believed that the clinical phenotypes of neurodegenerative diseases were caused by the loss of entire neurons, however it has recently become apparent that these neuronal sub-compartments can degenerate independently, with synapses being particularly vulnerable to a broad range of stimuli. Whilst the properties governing the differential degenerative mechanisms remain unknown, mitochondria consistently appear in the literature, suggesting these somewhat promiscuous organelles may play a role in affecting synaptic stability...
October 27, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29078374/taurine-ameliorates-particulate-matter-induced-emphysema-by-switching-on-mitochondrial-nadh-dehydrogenase-genes
#12
Xiaobo Li, Hongbao Yang, Hao Sun, Runze Lu, Chengcheng Zhang, Na Gao, Qingtao Meng, Shenshen Wu, Susanna Wang, Michael Aschner, Jiong Wu, Boping Tang, Aihua Gu, Steve A Kay, Rui Chen
Chronic obstructive pulmonary disease (COPD) has been linked to particulate matter (PM) exposure. Using transcriptomic analysis, we demonstrate that diesel exhaust particles, one of the major sources of particulate emission, down-regulated genes located in mitochondrial complexes I and V and induced experimental COPD in a mouse model. 1-Nitropyrene was identified as a major toxic component of PM-induced COPD. In the panel study, COPD patients were found to be more susceptible to PM than individuals with normal lung function due to an increased inflammatory response...
October 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29069650/dnajb1-hsp40-suppresses-melanoma-differentiation-associated-gene-5-mitochondrial-antiviral-signaling-protein-function-in-conjunction-with-hsp70
#13
Ken Takashima, Hiroyuki Oshiumi, Misako Matsumoto, Tsukasa Seya
Melanoma differentiation-associated gene 5 (MDA5) is a pattern recognition receptor that recognizes cytoplasmic viral double-stranded RNA (dsRNA) and initiates rapid innate antiviral responses. MDA5 forms a filament-like multimer along the dsRNA leading to oligomerization, which in turn activates the adaptor protein mitochondrial antiviral signaling protein (MAVS) to provide a signal platform for the induction of type I interferon (IFN) and proinflammatory cytokines. The conformational switch of MDA5 causes antiviral defense, but excessive activation of the MDA5-MAVS pathway may result in autoimmune diseases...
October 26, 2017: Journal of Innate Immunity
https://www.readbyqxmd.com/read/29069497/harmane-induced-selective-dopaminergic-neurotoxicity-in-c-elegans
#14
Shreesh Raj Sammi, Zeynep Sena Agim, Jason R Cannon
Parkinson's disease (PD) is a debilitating neurodegenerative disease. While numerous exposures have been linked to PD etiology, causative factors for most cases remain largely unknown. Emerging data on the neurotoxicity of heterocyclic amines suggest that this class of compounds should be examined for relevance to PD. Here, using C. elegans as a model system, we tested whether harmane exposure produced selective toxicity to dopamine neurons that is potentially relevant to PD. Harmane is a known tremorigenic β-carboline (a type of heterocyclic amine) found in cooked meat, roasted coffee beans, and tobacco...
October 23, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29061316/tea-polyphenols-ameliorates-neural-redox-imbalance-and-mitochondrial-dysfunction-via-mechanisms-linking-the-key-circadian-regular-bmal1
#15
Guoyuan Qi, Yashi Mi, Rong Fan, Beita Zhao, Bo Ren, Xuebo Liu
Circadian rhythms are autonomous anticipatory oscillators that control a large array of physiological and metabolic processes. Compelling evidence points toward an interplay between circadian rhythms and cellular redox metabolism. Dysregulation of circadian rhythms is associated with neurodegenerative diseases and accelerated aging. Tea polyphenols (TP) is one of the most used antioxidants and exerts beneficial effect on neurodegenerative diseases. The aim of this study is to investigate whether circadian clock mechanisms are involved in the protection effect of TP against neural redox imbalance and mitochondrial dysfunction in SH-SY5Y cells...
October 20, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29057315/mitochondrial-impairment-in-microglia-amplifies-nlrp3-inflammasome-proinflammatory-signaling-in-cell-culture-and-animal-models-of-parkinson-s-disease
#16
Souvarish Sarkar, Emir Malovic, Dilshan S Harishchandra, Shivani Ghaisas, Nikhil Panicker, Adhithiya Charli, Bharathi N Palanisamy, Dharmin Rokad, Huajun Jin, Vellareddy Anantharam, Arthi Kanthasamy, Anumantha G Kanthasamy
The NLRP3 inflammasome signaling pathway is a major contributor to the neuroinflammatory process in the central nervous system. Oxidative stress and mitochondrial dysfunction are key pathophysiological processes of many chronic neurodegenerative diseases, including Parkinson's disease (PD). However, the inter-relationship between mitochondrial defects and neuroinflammation is not well understood. In the present study, we show that impaired mitochondrial function can augment the NLRP3 inflammasome-driven proinflammatory cascade in microglia...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#17
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053389/mrpl53-a-new-candidate-gene-for-orofacial-clefting-identified-using-an-eqtl-approach
#18
C Masotti, L A Brito, A C Nica, K U Ludwig, K Nunes, C P Savastano, C Malcher, S G Ferreira, G S Kobayashi, D F Bueno, N Alonso, D Franco, A Rojas-Martinez, S E Dos Santos, P A Galante, D Meyer, T Hünemeier, E Mangold, E T Dermitzakis, M R Passos-Bueno
A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals...
October 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29047090/metabolic-reprogramming-and-redox-signaling-in-pulmonary-hypertension
#19
Lydie Plecitá-Hlavatá, Angelo D'alessandro, Karim El Kasmi, Min Li, Hui Zhang, Petr Ježek, Kurt R Stenmark
Pulmonary hypertension is a complex disease of the pulmonary vasculature, which in severe cases terminates in right heart failure. Complex remodeling of pulmonary arteries comprises the central issue of its pathology. This includes extensive proliferation, apoptotic resistance and inflammation. As such, the molecular and cellular features of pulmonary hypertension resemble hallmark characteristics of cancer cell behavior. The vascular remodeling derives from significant metabolic changes in resident cells, which we describe in detail...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29041825/cathepsin-l-deficiency-results-in-reactive-oxygen-species-ros-accumulation-and-vascular-cells-activation
#20
Guo-Xiang Fu, Alex F Chen, Qiu-Mei Xu, Bei-Bei Han, Gao-Zhong Huang, Yuan Zhong
Recent evidence suggests a link between cathepsin L (CTSL) and vascular diseases. However, its contribution to reactive oxygen species (ROS) homeostasis in the vasculature remains unknown. p66shc is a redox enzyme implicated in mitochondrial ROS generation and translation of oxidative signals. In this study, we explored the relationship between CTSL and oxidative damage in vasculature and whether the oxidative damage is mediated by p66shc.Carotid arteries from aged mice (24 months old) showed a reduction in CTSL expression compared with young wild-type mice (4 months old)...
October 29, 2017: Free Radical Research
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