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https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#1
Sausan Azzam, Daniela Schlatzer, David Nethery, Dania Saleh, Xiaolin Li, Afaf Akladious, Mark R Chance, Kingman P Strohl
Narcolepsy is a disabling neurological disorder of sleepiness linked to the loss of neurons producing orexin neuropeptides in the hypothalamus. Two well characterized phenotypic mouse models of narcolepsy, loss-of-function (orexin-knockout) and progressive loss of orexin (orexin/ataxin-3) exist. The open question is whether the proteomics signatures of the hypothalamus would be different between the two models. To address this gap, we utilized a label-free proteomics approach and conducted a hypothalamic proteome analysis by comparing each disease model to that of wild type...
May 22, 2017: Proteomics
https://www.readbyqxmd.com/read/28544378/concise-review-induced-pluripotent-stem-cell-based-drug-discovery-for-mitochondrial-disease
#2
REVIEW
Gizem Inak, Carmen Lorenz, Pawel Lisowski, Annika Zink, Barbara Mlody, Alessandro Prigione
High attrition rates and loss of capital plague the drug discovery process. This is particularly evident for mitochondrial disease that typically involves neurological manifestations and is caused by nuclear or mitochondrial DNA defects. This group of heterogeneous disorders is difficult to target because of the variability of the symptoms among individual patients and the lack of viable modeling systems. The use of induced pluripotent stem cells (iPSCs) might significantly improve the search for effective therapies for mitochondrial disease...
May 22, 2017: Stem Cells
https://www.readbyqxmd.com/read/28544332/fibroblast-growth-factor-2-protects-against-renal-ischaemia-reperfusion-injury-by-attenuating-mitochondrial-damage-and-proinflammatory-signalling
#3
Xiao-Hua Tan, Xiao-Meng Zheng, Li-Xia Yu, Jian He, Hong-Mei Zhu, Xiu-Ping Ge, Xiao-Li Ren, Fa-Qing Ye, Saverio Bellusci, Jian Xiao, Xiao-Kun Li, Jin-San Zhang
Ischaemia-reperfusion injury (I/RI) is a common cause of acute kidney injury (AKI). The molecular basis underlying I/RI-induced renal pathogenesis and measures to prevent or reverse this pathologic process remains to be resolved. Basic fibroblast growth factor (FGF2) is reported to have protective roles of myocardial infarction as well as in several other I/R related disorders. Herein we present evidence that FGF2 exhibits robust protective effect against renal histological and functional damages in a rat I/RI model...
May 24, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28544275/recessive-mutations-in-msto1-cause-mitochondrial-dynamics-impairment-leading-to-myopathy-and-ataxia
#4
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28542430/ros-regulation-of-axonal-mitochondrial-transport-is-mediated-by-ca2-and-jnk-in-drosophila
#5
Pin-Chao Liao, Lauren C Tandarich, Peter J Hollenbeck
Mitochondria perform critical functions including aerobic ATP production and calcium (Ca2+) homeostasis, but are also a major source of reactive oxygen species (ROS) production. To maintain cellular function and survival in neurons, mitochondria are transported along axons, and accumulate in regions with high demand for their functions. Oxidative stress and abnormal mitochondrial axonal transport are associated with neurodegenerative disorders. However, we know little about the connection between these two...
2017: PloS One
https://www.readbyqxmd.com/read/28540186/novel-recessive-mutations-in-coq4-cause-severe-infantile-cardiomyopathy-and-encephalopathy-associated-with-coq10-deficiency
#6
Neal Sondheimer, Stacy Hewson, Jessie M Cameron, Gino R Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B Naini
Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10-dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28539682/the-human-body-as-an-energetic-hybrid-new-perspectives-for-chronic-disease-treatment
#7
REVIEW
Michał Gajewski, Przemysław Rzodkiewicz, Sławomir Maśliński
Inflammatory response is accompanied by changes in cellular energy metabolism. Proinflammatory mediators like plasma C-reactive protein, IL-6, plasminogen activator inhibitor-1, TNF-α or monocyte chemoattractant protein-1 released in the site of inflammation activates immune cells and increase energy consumption. Increased demand for energy creates local hypoxia and lead in consequence to mitochondrial dysfunction. Metabolism of cells is switched to anaerobic glycolysis. Mitochondria continuously generate free radicals that what result in imbalance that causes oxidative stress, which results in oxidative damage...
2017: Reumatologia
https://www.readbyqxmd.com/read/28536827/genetic-counselling-for-maternally-inherited-mitochondrial-disorders
#8
REVIEW
Joanna Poulton, Josef Finsterer, Patrick Yu-Wai-Man
The aim of this review was to provide an evidence-based approach to frequently asked questions relating to the risk of transmitting a maternally inherited mitochondrial disorder (MID). We do not address disorders linked with disturbed mitochondrial DNA (mtDNA) maintenance, causing mtDNA depletion or multiple mtDNA deletions, as these are autosomally inherited. The review addresses questions regarding prognosis, recurrence risks and the strategies available to prevent disease transmission. The clinical and genetic complexity of maternally inherited MIDs represent a major challenge for patients, their relatives and health professionals...
May 23, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28534301/effects-of-acetyl-l-carnitine-in-diabetic-neuropathy-and-other-geriatric-disorders
#9
REVIEW
G Sergi, S Pizzato, F Piovesan, C Trevisan, N Veronese, E Manzato
A long history of diabetes mellitus and increasing age are associated with the onset of diabetic neuropathy, a painful and highly disabling complication with a prevalence peaking at 50% among elderly diabetic patients. Acetyl-L-carnitine (ALC) is a molecule derived from the acetylation of carnitine in the mitochondria that has an essential role in energy production. It has recently been proposed as a therapy to improve the symptoms of diabetic neuropathy. ALC is widely distributed in mammalian tissues, including the brain, blood-brain barrier, brain neurons, and astrocytes...
May 22, 2017: Aging Clinical and Experimental Research
https://www.readbyqxmd.com/read/28534273/tauroursodeoxycholic-acid-enhances-mitochondrial-biogenesis-neural-stem-cell-pool-and-early-neurogenesis-in-adult-rats
#10
Rita Soares, Filipa F Ribeiro, Sara Xapelli, Tânia Genebra, Maria F Ribeiro, Ana M Sebastião, Cecília M P Rodrigues, Susana Solá
Although neurogenesis occurs in restricted regions of the adult mammalian brain, neural stem cells (NSCs) produce very few neurons during ageing or after injury. We have recently discovered that the endogenous bile acid tauroursodeoxycholic acid (TUDCA), a strong inhibitor of mitochondrial apoptosis and a neuroprotective in animal models of neurodegenerative disorders, also enhances NSC proliferation, self-renewal, and neuronal conversion by improving mitochondrial integrity and function of NSCs. In the present study, we explore the effect of TUDCA on regulation of NSC fate in neurogenic niches, the subventricular zone (SVZ) of the lateral ventricles and the hippocampal dentate gyrus (DG), using rat postnatal neurospheres and adult rats exposed to the bile acid...
May 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28532786/fluxomic-evidence-for-impaired-contribution-of-short-chain-acyl-coa-dehydrogenase-to-mitochondrial-palmitate-%C3%AE-oxidation-in-symptomatic-patients-with-acads-gene-susceptibility-variants
#11
Anne-Frédérique Dessein, Monique Fontaine, Marie Joncquel Chevalier Curt, Gilbert Briand, Claire Sechter, Karine Mention-Mulliez, Dries Dobbelaere, Claire Douillard, Arnaud Lacour, Isabelle Redonnet-Vernhet, Delphine Lamireau, Magalie Barth, Marie-Christine Minot-Myhié, Alice Kuster, Pascale de Lonlay, Niels Gregersen, Cécile Acquaviva, Christine Vianey-Saban, Joseph Vamecq
BACKGROUND: Despite ACADS (acyl-CoA dehydrogenase, short-chain) gene susceptibility variants (c.511C>T and c.625G>A) are considered to be non-pathogenic, encoded proteins are known to exhibit altered kinetics. Whether or not, they might affect overall fatty acid β-oxidation still remains, however, unclear. METHODS: De novo biosynthesis of acylcarnitines by whole blood samples incubated with deuterated palmitate (16-(2)H3,15-(2)H2-palmitate) is suitable as a fluxomic exploration to distinguish between normal and disrupted β-oxidation, abnormal profiles and ratios of acylcarnitines with different chain-lengths being indicative of the site for enzymatic blockade...
May 19, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28532160/primer-in-genetics-and-genomics-article-4-inheritance-patterns
#12
Lisa B Aiello, Beth Desaretz Chiatti
Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28531191/exogenous-expression-of-drp1-plays-neuroprotective-roles-in-the-alzheimer-s-disease-in-the-a%C3%AE-42-transgenic-drosophila-model
#13
Fengshou Lv, Xiaopeng Yang, Chuanju Cui, Chunhe Su
BACKGROUND: Alzheimer's disease (AD) is one of the most common neurodegenerative disorders. Recent studies have shown that mitochondrial dysfunction is a causative factor of AD. Drp1 (Dynamin-related protein 1), a regulator of mitochondrial fission, shows neuroprotective effects on Parkinson's disease. In this study, we investigate the effect and mechanism of Drp1 on Aβ42 transgenic Drosophila. METHODS: Elav-gal4/UAS>Aβ42 transgenic Drosophila model was constructed using Elav-gal4 promoter...
2017: PloS One
https://www.readbyqxmd.com/read/28529475/fragile-x-associated-tremor-ataxia-syndrome-from-molecular-pathogenesis-to-development-of-therapeutics
#14
REVIEW
Ha Eun Kong, Juan Zhao, Shunliang Xu, Peng Jin, Yan Jin
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a premutation CGG repeat expansion (55-200 repeats) within the 5' UTR of the fragile X gene (FMR1). FXTAS is characterized by intension tremor, cerebellar ataxia, progressive neurodegeneration, parkinsonism and cognitive decline. The development of transgenic mouse and Drosophila melanogaster models carrying an expanded CGG repeat has yielded valuable insight into the pathophysiology of FXTAS. To date, we know of two main molecular mechanisms of this disorder: (1) a toxic gain of function of the expanded CGG-repeat FMR1 mRNA, which results in the binding/sequestration of the CGG-binding proteins; and (2) CGG repeat-associated non-AUG-initiated (RAN) translation, which generates a polyglycine peptide toxic to cells...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28528298/emerging-role-of-monoamine-oxidase-as-a-therapeutic-target-for-cardiovascular-disease
#15
REVIEW
Soni Deshwal, Moises Di Sante, Fabio Di Lisa, Nina Kaludercic
In the past decade, accumulating evidence highlighted the role of monoamine oxidases (MAOs) in cardiovascular disease (CVD). MAOs are flavoenzymes located in the outer mitochondrial membrane, responsible for the degradation of neurotransmitters and biogenic amines. During this process they generate hydrogen peroxide, aldehydes and ammonia, species that can target mitochondria and induce mitochondrial dysfunction and cardiomyocyte death. Indeed, MAO inhibition affords cardioprotection in several models of CVD, such as ischemia/reperfusion, heart failure and diabetes...
May 18, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28527893/chemistry-and-biology-of-reactive-species-with-special-reference-to-the-antioxidative-defence-status-in-pancreatic-%C3%AE-cells
#16
REVIEW
Sigurd Lenzen
BACKGROUND: Diabetes mellitus is a serious metabolic disease. Dysfunction and subsequent loss of the β-cells in the islets of Langerhans through apoptosis ultimately cause a life-threatening insulin deficiency. The underlying reason for the particular vulnerability of the β-cells is an extraordinary sensitivity to the toxicity of reactive oxygen and nitrogen species (ROS and RNS) due to its low antioxidative defense status. SCOPE REVIEW: This review considers the different aspects of the chemistry and biology of the biologically most important reactive species and their chemico-biological interactions in the β-cell toxicity of proinflammatory cytokines in type 1 diabetes and of lipotoxicity in type 2 diabetes development...
May 17, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28527050/interplay-between-sirt-3-metabolism-and-its-tumor-suppressor-role-in-hepatocellular-carcinoma
#17
REVIEW
Serena De Matteis, Anna Maria Granato, Roberta Napolitano, Chiara Molinari, Martina Valgiusti, Daniele Santini, Francesco Giuseppe Foschi, Giorgio Ercolani, Umberto Vespasiani Gentilucci, Luca Faloppi, Mario Scartozzi, Giovanni Luca Frassineti, Andrea Casadei Gardini
Sirtuins (SIRT), first described as nicotinamide adenine dinucleotide (NAD(+))-dependent type III histone deacetylases, are produced by cells to support in the defense against chronic stress conditions such as metabolic syndromes, neurodegeneration, and cancer. SIRT-3 is one of the most studied members of the mitochondrial sirtuins family. In particular, its involvement in metabolic diseases and its dual role in cancer have been described. In the present review, based on the evidence of SIRT-3 involvement in metabolic dysfunctions, we aimed to provide an insight into the multifaceted role of SIRT-3 in many solid and hematological tumors with a particular focus on hepatocellular carcinoma (HCC)...
May 19, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28526869/blocking-of-carnitine-palmitoyl-transferase-1-potently-reduces-stress-induced-depression-in-rat-highlighting-a-pivotal-role-of-lipid-metabolism
#18
Anne Skøttrup Mørkholt, Ove Wiborg, Jette G K Nieland, Søren Nielsen, John Dirk Nieland
Major depressive disorder is a complex and common mental disease, for which the pathology has not been elucidated. The purpose of this study is to provide knowledge about the importance of mitochondrial dysfunction, dysregulated lipid metabolism and inflammation. Mitochondrial carnitine palmitoyl transferase 1a (CPT1a) is a key molecule involved in lipid metabolism and mutations in CPT1a causing reduced function is hypothesized to have a protective role in the development of depression. Moreover, CPT1a is found to be upregulated in suicide patients with history of depression...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526246/impaired-mitophagy-facilitates-mitochondrial-damage-in-danon-disease
#19
Sherin I Hashem, Anne N Murphy, Ajit S Divakaruni, Matthew L Klos, Bradley C Nelson, Emily C Gault, Teisha J Rowland, Cynthia N Perry, Yusu Gu, Nancy D Dalton, William H Bradford, Eric J Devaney, Kirk L Peterson, Kenneth L Jones, Matthew R G Taylor, Ju Chen, Neil C Chi, Eric D Adler
RATIONALE: Lysosomal associated membrane protein type-2 (LAMP-2) is a highly conserved, ubiquitous protein that is critical for autophagic flux. Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized by developmental delay, skeletal muscle weakness, and severe cardiomyopathy. We previously found that human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from Danon patients exhibited significant mitochondrial oxidative stress and apoptosis...
May 16, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28523458/the-respiratory-chain-inhibitor-rotenone-affects-peroxisomal-dynamics-via-its-microtubule-destabilising-activity
#20
Josiah B Passmore, Sonia Pinho, Maria Gomez-Lazaro, Michael Schrader
Peroxisomes and mitochondria in mammalian cells are closely linked subcellular organelles, which maintain a redox-sensitive relationship. Their interplay and role in ROS signalling are supposed to impact on age-related and degenerative disorders. Whereas the generation of peroxisome-derived oxidative stress can affect mitochondrial morphology and function, little is known about the impact of mitochondria-derived oxidative stress on peroxisomes. Here, we investigated the effect of the mitochondrial complex I inhibitor rotenone on peroxisomal and mitochondrial membrane dynamics...
May 18, 2017: Histochemistry and Cell Biology
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