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Mitochondrial disorder

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https://www.readbyqxmd.com/read/29679261/accumulation-of-mitochondrial-dna-common-deletion-since-the-preataxic-stage-of-machado-joseph-disease
#1
Mafalda Raposo, Amanda Ramos, Cristina Santos, Nadiya Kazachkova, Balbina Teixeira, Conceição Bettencourt, Manuela Lima
Molecular alterations reflecting pathophysiologic changes thought to occur many years before the clinical onset of Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3), a late-onset polyglutamine disorder, remain unidentified. The absence of molecular biomarkers hampers clinical trials, which lack sensitive measures of disease progression, preventing the identification of events occurring prior to clinical onset. Our aim was to analyse the mtDNA content and the amount of the common deletion (m...
April 21, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29678572/sildenafil-protects-neuronal-cells-from-mitochondrial-toxicity-induced-by-%C3%AE-amyloid-peptide-via-atp-sensitive-k-channels
#2
Yonghae Son, Koanhoi Kim, Hyok-Rae Cho
To understand the molecular mechanisms underlying the beneficial effects of sildenafil in animal models of neurological disorders, we investigated the effects of sildenafil on the mitochondrial toxicity induced by β-amyloid (Aβ) peptide. Treatment of HT-22 hippocampal neuronal cells with Aβ25∼35 results in increased mitochondrial Ca2+ load, which is subsequently suppressed by sildenafil as well as by diazoxide, a selective opener of the ATP-sensitive K+ channels (KATP ). However, the suppressive effects of sildenafil and diazoxide are significantly attenuated by 5-hydroxydecanoic acid (5-HD), a KATP inhibitor...
April 17, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29678518/pattern-recognition-receptors-mediate-pro-inflammatory-effects-of-extracellular-mitochondrial-transcription-factor-a-tfam
#3
Stephanie M Schindler, Matthew G Frank, Jessica L Annis, Steven F Maier, Andis Klegeris
Neuroinflammation is a common pathogenic mechanism for a number of neurodegenerative disorders including Alzheimer's and Parkinson's diseases. Microglia, the immune cells of the brain, contribute to the onset and progression of the neuroinflammation observed in these diseases. Microglia become activated and initiate an inflammatory response by interacting with a diverse set of molecules, including the group of endogenous proteins released upon cell damage, termed damage-associated molecular patterns (DAMPs)...
April 17, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29678161/an-unusually-high-frequency-of-scad-deficiency-caused-by-two-pathogenic-variants-in-the-acads-gene-and-its-relationship-to-the-ethnic-structure-in-slovakia
#4
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
BACKGROUND: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia...
April 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29677102/implications-of-pi3k-akt-pten-signaling-on-superoxide-dismutases-expression-and-in-the-pathogenesis-of-alzheimer-s-disease
#5
REVIEW
Satoru Matsuda, Yukie Nakagawa, Ai Tsuji, Yasuko Kitagishi, Atsuko Nakanishi, Toshiyuki Murai
Alzheimer’s disease is a neurodegenerative sickness, where the speed of personal disease progression differs prominently due to genetic and environmental factors such as life style. Alzheimer’s disease is described by the construction of neuronal plaques and neurofibrillary tangles composed of phosphorylated tau protein. Mitochondrial dysfunction may be a noticeable feature of Alzheimer’s disease and increased production of reactive oxygen species has long been described. Superoxide dismutases (SODs) protect from excess reactive oxygen species to form less reactive hydrogen peroxide...
April 20, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29676481/high-mobility-group-box-1-in-parkinson-s-disease-from-pathogenesis-to-therapeutic-approaches
#6
REVIEW
Efthalia Angelopoulou, Christina Piperi, Athanasios G Papavassiliou
Parkinson's disease (PD) presents the second most common neurodegenerative disorder with largely unknown pathogenesis and inefficient therapeutic management. Accumulating data indicate that neuroinflammation, autophagy impairment, α-synuclein aggregation and mitochondrial dysfunction may contribute to PD onset; however the molecular mechanisms underlying these pathophysiological processes are still under elucidation. Interestingly, recent evidence has indicated that High-mobility group box 1 (HMGB1), a DNA-binding protein that can be actively secreted by inflammatory cells and passively released by necrotic cells may play a key role in PD pathogenesis...
April 20, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29675670/principles-of-exercise-prescription-and-how-they-influence-exercise-induced-changes-of-transcription-factors-and-other-regulators-of-mitochondrial-biogenesis
#7
REVIEW
Cesare Granata, Nicholas A Jamnick, David J Bishop
Physical inactivity represents the fourth leading risk factor for mortality, and it has been linked with a series of chronic disorders, the treatment of which absorbs ~ 85% of healthcare costs in developed countries. Conversely, physical activity promotes many health benefits; endurance exercise in particular represents a powerful stimulus to induce mitochondrial biogenesis, and it is routinely used to prevent and treat chronic metabolic disorders linked with sub-optimal mitochondrial characteristics. Given the importance of maintaining a healthy mitochondrial pool, it is vital to better characterize how manipulating the endurance exercise dose affects cellular mechanisms of exercise-induced mitochondrial biogenesis...
April 19, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29675530/hepatoprotective-activity-of-iridoids-seco-iridoids-and-analog-glycosides-from-gentianaceae-on-hepg2-cells-via-cyp3a4-induction-and-mitochondrial-pathway
#8
Kang Dai, Xue-Jia Yi, Xian-Ju Huang, Azhar Muhammad, Mei Li, Jun Li, Guang-Zhong Yang, Yue Gao
Gentianaceae herb extracts have been widely used as food additives, teas or medicinal remedies for various diseases and disorders of the human body. Herein, the potential effects of iridoids, seco-iridoids and analog glycosides from gentian on acontine-induced hepatotoxicity were investigated in HepG2 cells to obtain metabolic data of drug-biotarget interactions. Molecular docking analysis was performed to assess the binding efficiencies of 53 iridoids, seco-iridoids and analog compounds obtained from 50 gentian species to the active sites of human CYP3A4 enzyme...
April 20, 2018: Food & Function
https://www.readbyqxmd.com/read/29674247/apple-peel-polyphenols-reduce-mitochondrial-dysfunction-in-mice-with-dss-induced-ulcerative-colitis
#9
Pantea Rahmani Yeganeh, Jade Leahy, Schohraya Spahis, Natalie Patey, Yves Desjardins, Denis Roy, Edgard Delvin, Carole Garofalo, Jean-Philippe Leduc-Gaudet, David St-Pierre, Jean-François Beaulieu, André Marette, Gilles Gouspillou, Emile Levy
Inflammatory bowel diseases (IBDs) are multifaceted and relapsing immune disorders, which necessitate long-term dependence on powerful drugs. As the use of natural product-based therapies has emerged as a promising intervention, the present study aimed to further characterize dried apple peel powder (DAPP) mechanisms of action and evaluate the preventive and curative effects of DAPP on mitochondrial functions in a murine model. Induction of intestinal inflammation in mice is performed by oral administration of the dextran sodium sulfate (DSS) at 2...
March 21, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29673970/the-role-of-compartmentalized-signaling-pathways-in-the-control-of-mitochondrial-activities-in-cancer-cells
#10
REVIEW
Laura Rinaldi, Rossella Delle Donne, Domenica Borzacchiello, Luigi Insabato, Antonio Feliciello
Mitochondria are the powerhouse organelles present in all eukaryotic cells. They play a fundamental role in cell respiration, survival and metabolism. Stimulation of G-protein coupled receptors (GPCRs) by dedicated ligands and consequent activation of the cAMP·PKA pathway finely coupleenergy production and metabolism to cell growth and survival. Compartmentalization of PKA signaling at mitochondria by A-Kinase Anchor Proteins (AKAPs) ensures efficient transduction of signals generated at the cell membrane to the organelles, controlling important aspects of mitochondrial biology...
April 16, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29673543/dihydrocapsiate-supplementation-prevented-high-fat-diet-induced-adiposity-hepatic-steatosis-glucose-intolerance-and-gut-morphological-alterations-in-mice
#11
Ritesh K Baboota, Pragyanshu Khare, Priyanka Mangal, Dhirendra Pratap Singh, Kamlesh K Bhutani, Kanthi K Kondepudi, Jaspreet Kaur, Mahendra Bishnoi
Despite the lipolytic and thermogenic properties of capsaicin, its putative use as a weight-lowering dietary supplement has been limited because of the burning sensation caused by capsaicin when it comes in contact with mucous membranes. A potential alternative to capsaicin are the capsinoids, nonpungent capsaicin analogs that exhibit effects similar to capsaicin. Whereas the antiobesity properties of capsinoids have been reported, the effectiveness of FDA-approved synthetic dihydrocapsiate has not yet been investigated...
March 2018: Nutrition Research
https://www.readbyqxmd.com/read/29671396/composite-mathematical-modeling-of-calcium-signaling-behind-neuronal-cell-death-in-alzheimer-s-disease
#12
Bobby Ranjan, Ket Hing Chong, Jie Zheng
BACKGROUND: Alzheimer's disease (AD) is a progressive neurological disorder, recognized as the most common cause of dementia affecting people aged 65 and above. AD is characterized by an increase in amyloid metabolism, and by the misfolding and deposition of β-amyloid oligomers in and around neurons in the brain. These processes remodel the calcium signaling mechanism in neurons, leading to cell death via apoptosis. Despite accumulating knowledge about the biological processes underlying AD, mathematical models to date are restricted to depicting only a small portion of the pathology...
April 11, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29671352/huntington-s-disease-novel-therapeutic-perspectives-hanging-in-the-balance
#13
Ana Saavedra, Gerardo García-Díaz Barriga, Esther Pérez-Navarro, Jordi Alberch
Huntington's disease (HD), an autosomal dominant neurodegenerative disorder caused by an expansion of CAG repeats in the huntingtin gene, has long been characterized by the presence of motor symptoms due to the loss of striatal projection neurons. Cognitive dysfunction and neuropsychiatric symptoms are also present and they occur in the absence of cell death in most mouse models, pointing to neuronal dysfunction and abnormal synaptic plasticity as causative mechanisms. Areas covered: Here, we focus on those common mechanisms altered by the presence of mutant huntingtin affecting corticostriatal and hippocampal function as therapeutic targets that could prove beneficial to ameliorate both cognitive and motor function in HD...
April 19, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29671021/protective-effect-of-vinpocetine-against-neurotoxicity-of-manganese-in-adult-male-rats
#14
Rania I Nadeem, Hebatalla I Ahmed, Bahia M El-Sayeh
Manganese (Mn) is required for many essential biological processes as well as in the development and functioning of the brain. Extensive accumulation of Mn in the brain may cause central nervous system dysfunction known as manganism, a motor disorder associated with cognitive and neuropsychiatric deficits similar to parkinsonism. Vinpocetine, a synthetic derivative of the alkaloid vincamine, is used to improve the cognitive function in cerebrovascular diseases. It possesses antioxidant and antiinflammatory properties...
April 18, 2018: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/29670542/atp-synthase-diseases-of-mitochondrial-genetic-origin
#15
REVIEW
Alain Dautant, Thomas Meier, Alexander Hahn, Déborah Tribouillard-Tanvier, Jean-Paul di Rago, Roza Kucharczyk
Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP synthases, and the availability of genetically approachable systems such as the yeast Saccharomyces cerevisiae , we can begin to understand these molecular machines and their associated defects at the molecular level...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29670128/mitochondrial-function-in-individuals-at-clinical-high-risk-for-psychosis
#16
Tania Da Silva, Abbie Wu, Isabelle Laksono, Ivana Prce, Margaret Maheandiran, Michael Kiang, Ana C Andreazza, Romina Mizrahi
Alterations in mitochondrial function have been implicated in the etiology of schizophrenia. Most studies have investigated alterations in mitochondrial function in patients in which the disorder is already established; however, whether mitochondrial dysfunction predates the onset of psychosis remains unknown. We measured peripheral mitochondrial complex (I-V) function and lactate/pyruvate levels in 27 antipsychotic-naïve individuals at clinical high risk for psychosis (CHR) and 16 healthy controls. We also explored the association between mitochondrial function and brain microglial activation and glutathione levels using a translocator protein 18 kDa [18 F]FEPPA PET scan and 1 H-MRS scan, respectively...
April 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29669943/whole-exome-sequencing-uncovers-oxidoreductases-dhtkd1-and-ogdhl-as-linkers-between-mitochondrial-dysfunction-and-eosinophilic-esophagitis
#17
Joseph D Sherrill, Kiran Kc, Xinjian Wang, Ting Wen, Adam Chamberlin, Emily M Stucke, Margaret H Collins, J Pablo Abonia, Yanyan Peng, Qiang Wu, Philip E Putnam, Phillip J Dexheimer, Bruce J Aronow, Leah C Kottyan, Kenneth M Kaufman, John B Harley, Taosheng Huang, Marc E Rothenberg
Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and transketolase domain-containing 1 (DHTKD1). Rare variant burden analysis revealed an overabundance of putative, potentially damaging DHTKD1 mutations in EoE (P = 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29666206/taurine-supplementation-for-prevention-of-stroke-like-episodes-in-melas-a-multicentre-open-label-52-week-phase-iii-trial
#18
Yutaka Ohsawa, Hiroki Hagiwara, Shin-Ichiro Nishimatsu, Akihiro Hirakawa, Naomi Kamimura, Hideaki Ohtsubo, Yuta Fukai, Tatsufumi Murakami, Yasutoshi Koga, Yu-Ichi Goto, Shigeo Ohta, Yoshihide Sunada
OBJECTIVE: The aim of this study was to evaluate the efficacy and safety of high-dose taurine supplementation for prevention of stroke-like episodes of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), a rare genetic disorder caused by point mutations in the mitochondrial DNA that lead to a taurine modification defect at the first anticodon nucleotide of mitochondrial tRNALeu(UUR) , resulting in failure to decode codons accurately. METHODS: After the nationwide survey of MELAS, we conducted a multicentre, open-label, phase III trial in which 10 patients with recurrent stroke-like episodes received high-dose taurine (9 g or 12 g per day) for 52 weeks...
April 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29663996/-establishment-and-evaluation-of-mouse-models-of-septic-myocardial-injury
#19
Liya Hu, Peijun Li, Chao Chang, Shan Liu, Yanqiu Song, Fumei Zhao, Ting Liu
OBJECTIVE: Mouse models of sepsis-induced myocardial injury by intraperitoneal injection of lipopolysaccharide (LPS) was established in order to provide a reliable method for the research of pathogenesis of sepsis-induced myocardial injury. METHODS: According to the method of random number table, a total of 150 male C57BL/6 mice were divided into five groups: NC group, sham group, and LPS 10, 12, 15 mg/kg groups, with 30 in each group. Septic myocardial injury was induced by intraperitoneal injection LPS in mice; sham group was injected with equal 0...
April 2018: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/29663074/detection-of-pro-apoptotic-bax%C3%A2-2-proteins-in-the-human-cerebellum
#20
Adriana Mañas, Aislinn Davis, Sydney Lamerand, Jialing Xiang
Bax∆2 is a pro-apoptotic protein originally discovered in colon cancer patients with high microsatellite instability. Unlike most pro-apoptotic Bax family members, Bax∆2 mediates cell death through a non-mitochondrial caspase 8-dependent pathway. In the scope of analyzing the distribution of Bax∆2 expression in human tissues, we examined a panel of human brain samples. Here, we report four cerebellar cases in which the subjects had no neurological disorder or disease documented. We found Bax∆2 positive cells scattered in all areas of the cerebellum, but most strikingly concentrated in Purkinje cell bodies and dendrites...
April 17, 2018: Histochemistry and Cell Biology
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