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https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#1
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28427098/opa1-in-lipid-metabolism-function-of-opa1-in-lipolysis-and-thermogenesis-of-adipocytes
#2
Dinh-Toi Chu, Yang Tao, Kjetil Taskén
OPA1 (Optic Atrophy 1) is a mitochondrial GTPase known to regulate fission of mitochondria. It was recently also shown to locate on lipid droplets in adipocytes where it functions as an A-kinase anchoring protein (AKAP) that mediates adrenergic control of lipolysis by facilitating PKA phosphorylation of perilipin (Plin1). In brown adipocytes indirect evidence support the notion that OPA1 regulation of fission serves to increase thermogenesis, which thereby contributes to dissipation of energy. In white adipocytes, OPA1 located on lipid droplets serves as a gatekeeper to control lipolysis induced by adrenergic agonists...
April 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28423551/metabolic-reprogramming-of-the-premalignant-colonic-mucosa-is-an-early-event-in-carcinogenesis
#3
Mart Dela Cruz, Sarah Ledbetter, Sanjib Chowdhury, Ashish K Tiwari, Navneet Momi, Ramesh K Wali, Charles Bliss, Christopher Huang, David Lichtenstein, Swati Bhattacharya, Anisha Varma-Wilson, Vadim Backman, Hemant K Roy
BACKGROUND: Colorectal cancer (CRC) is the second leading cause of cancer-related mortality in the United States. There is an increasing need for the identification of biomarkers of pre-malignant and early stage CRC to improve risk-stratification and screening recommendations. In this study, we investigated the possibility of metabolic and mitochondrial reprogramming early in the pre-malignant colorectal field. METHODS: Rectal biopsies were taken from 81 patients undergoing screening colonoscopy, and gene expression of metabolic and mitochondrial markers were assessed using real time quantitative PCR...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28410195/antagonistic-effects-of-selenium-on-lead-induced-autophagy-by-influencing-mitochondrial-dynamics-in-the-spleen-of-chickens
#4
Yujing Han, Chunqiu Li, Mingjun Su, Zhihui Wang, Ning Jiang, Dongbo Sun
Lead (Pb) may damage the immune function in human and animal. Selenium (Se) has antagonistic effects on Pb. In our study, brown layer chickens were randomly allocated to control group, Se group (1 mg/kg Se), Se+Pb group (1 mg/kg Se and 350 mg/kg Pb), and Pb group (350 mg/kg Pb). The chickens were sacrificed on the 90th day; spleen tissues were subjected to observation of ultrastructure and detection of spleen-related indexes. The results revealed that in the Pb group, expression levels of the cytokines IL-1 and TNF-α significantly increased, and expression levels of IL-2 and INF-γ significantly decreased; activities of antioxidant enzyme GPX, SOD and CAT significantly decreased, and expression level of malondialdehyde (MDA) significantly increased; expression levels of mitochondrial fission-related genes (Mff and Drp1) significantly increased, and expression levels of mitochondrial fusion-related genes (Opa1, Mfn1 and Mfn2) significantly decreased; expression of autophagy-related genes (Beclin 1, Dynein, Atg 5, LC3-I and LC-II) was upregulated, while expression of mammalian target of rapamycin (mTOR) was downregulated...
March 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28379197/abnormalities-of-mitochondrial-dynamics-in-neurodegenerative-diseases
#5
REVIEW
Ju Gao, Luwen Wang, Jingyi Liu, Fei Xie, Bo Su, Xinglong Wang
Neurodegenerative diseases are incurable and devastating neurological disorders characterized by the progressive loss of the structure and function of neurons in the central nervous system or peripheral nervous system. Mitochondria, organelles found in most eukaryotic cells, are essential for neuronal survival and are involved in a number of neuronal functions. Mitochondrial dysfunction has long been demonstrated as a common prominent early pathological feature of a variety of common neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and Huntington's disease (HD)...
April 5, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/28378518/autophagy-controls-the-pathogenicity-of-opa1-mutations-in-dominant-optic-atrophy
#6
Mariame Selma Kane, Jennifer Alban, Valérie Desquiret-Dumas, Naïg Gueguen, Layal Ishak, Marc Ferre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier
Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of the protein and causes DOA through haploinsufficiency, whereas missense OPA1 mutations are predicted to cause disease through deleterious dominant-negative mechanisms. We used 3D imaging and biochemical analysis to explore autophagy and mitophagy in fibroblasts from seven patients harbouring OPA1 mutations...
April 4, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28342806/molecular-regulation-of-mitochondrial-dynamics-in-cardiac-disease
#7
REVIEW
Jinliang Nan, Wei Zhu, M S Rahman, Mingfei Liu, Dan Li, Shengan Su, Na Zhang, Xinyang Hu, Hong Yu, Mahesh P Gupta, Jian''an Wang
Mitochondrial homeostasis is critical for keeping functional heart in response to metabolic or environmental stresses. Mitochondrial fission and fusion (mitochondrial dynamics) play essential roles in maintaining mitochondrial homeostasis, defects in mitochondrial dynamics lead to cardiac diseases such as ischemia-reperfusion injury (IRI), heart failure and diabetic cardiomyopathy. Mitochondrial dynamics is determined by mitochondrial fission and fusion proteins, including OPA1, mitofusins and Drp1. These proteins are tightly regulated by a series of signaling pathways through different aspects such as transcription, post translation modifications (PTMs) and proteasome-dependent protein degradation...
March 22, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28298442/the-short-variant-of-the-mitochondrial-dynamin-opa1-maintains-mitochondrial-energetics-and-cristae-structure
#8
Hakjoo Lee, Sylvia B Smith, Yisang Yoon
The protein optic atrophy 1 (OPA1) is a dynamin-related protein associated with the inner mitochondrial membrane, and functions in mitochondrial inner membrane fusion and cristae maintenance. Inner membrane-anchored long OPA1 (L-OPA1) undergoes proteolytic cleavage resulting in short OPA1 (S-OPA1). It is often thought that S-OPA1 is a functionally insignificant proteolytic product of L-OPA1 because the accumulation of S-OPA1 due to L-OPA1 cleavage is observed in mitochondrial fragmentation and dysfunction. However, cells contain a mixture of both L- and S-OPA1 in normal conditions, suggesting the functional significance of maintaining both OPA1 forms, but the differential roles of L- and S-OPA1 in mitochondrial fusion and energetics are ill-defined...
March 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28290498/inhibition-of-leukotriene-b4-receptor-1-attenuates-lipopolysaccharide-induced-cardiac-dysfunction-role-of-ampk-regulated-mitochondrial-function
#9
Meng Sun, Rui Wang, Qinghua Han
Leukotriene B4 (LTB4)-mediated leukocyte recruitment and inflammatory cytokine production make crucial contributions to chronic inflammation and sepsis; however, the role of LTB4 in lipopolysaccharide (LPS)-induced cardiac dysfunction remains unclear. Therefore, the present study addressed this issue using an LTB4 receptor 1 (BLT1) inhibitor. Administration of LPS to mice resulted in decreased cardiovascular function. Inhibition of LTB4/BLT1 with the BLT1 inhibitor U75302 significantly improved survival and attenuated the LPS-induced acute cardiac dysfunction...
March 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28288130/parl-mediates-smac-proteolytic-maturation-in-mitochondria-to-promote-apoptosis
#10
Shotaro Saita, Hendrik Nolte, Kai Uwe Fiedler, Hamid Kashkar, A Saskia Venne, René P Zahedi, Marcus Krüger, Thomas Langer
Mitochondria drive apoptosis by releasing pro-apoptotic proteins that promote caspase activation in the cytosol. The rhomboid protease PARL, an intramembrane cleaving peptidase in the inner membrane, regulates mitophagy and plays an ill-defined role in apoptosis. Here, we employed PARL-based proteomics to define its substrate spectrum. Our data identified the mitochondrial pro-apoptotic protein Smac (also known as DIABLO) as a PARL substrate. In apoptotic cells, Smac is released into the cytosol and promotes caspase activity by inhibiting inhibitors of apoptosis (IAPs)...
March 13, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28251677/mitochondrial-dna-and-primary-mitochondrial-dysfunction-in-parkinson-s-disease
#11
REVIEW
Maria Pia Giannoccaro, Chiara La Morgia, Giovanni Rizzo, Valerio Carelli
In 1979, it was observed that parkinsonism could be induced by a toxin inhibiting mitochondrial respiratory complex I. This initiated the long-standing hypothesis that mitochondrial dysfunction may play a key role in the pathogenesis of Parkinson's disease (PD). This hypothesis evolved, with accumulating evidence pointing to complex I dysfunction, which could be caused by environmental or genetic factors. Attention was focused on the mitochondrial DNA, considering the occurrence of mutations, polymorphic haplogroup-specific variants, and defective mitochondrial DNA maintenance with the accumulation of multiple deletions and a reduction of copy number...
March 2, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28245802/characterization-of-two-novel-intronic-opa1-mutations-resulting-in-aberrant-pre-mrna-splicing
#12
Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati, André Schaller
BACKGROUND: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. METHODS: We analyzed two unrelated families including four affected individuals clinically suspicious of ADOA. Standard ocular examinations were performed in affected individuals of both families...
February 28, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28239650/mitophagy-and-mitochondrial-biogenesis-in-atrial-tissue-of-patients-undergoing-heart-surgery-with-cardiopulmonary-bypass
#13
Allen M Andres, Kyle C Tucker, Amandine Thomas, David J R Taylor, David Sengstock, Salik M Jahania, Reza Dabir, Somayeh Pourpirali, Jamelle A Brown, David G Westbrook, Scott W Ballinger, Robert M Mentzer, Roberta A Gottlieb
Mitophagy occurs during ischemia/reperfusion (I/R) and limits oxidative stress and injury. Mitochondrial turnover was assessed in patients undergoing cardiac surgery involving cardiopulmonary bypass (CPB). Paired biopsies of right atrial appendage before initiation and after weaning from CPB were processed for protein analysis, mitochondrial DNA/nuclear DNA ratio (mtDNA:nucDNA ratio), mtDNA damage, mRNA, and polysome profiling. Mitophagy in the post-CPB samples was evidenced by decreased levels of mitophagy adapters NDP52 and optineurin in whole tissue lysate, decreased Opa1 long form, and translocation of Parkin to the mitochondrial fraction...
February 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28228254/control-of-mitochondrial-remodeling-by-the-atpase-inhibitory-factor-1%C3%A2-unveils-a-pro-survival-relay-via-opa1
#14
Danilo Faccenda, Junji Nakamura, Giulia Gorini, Gurtej K Dhoot, Mauro Piacentini, Masusuke Yoshida, Michelangelo Campanella
The ubiquitously expressed ATPase inhibitory factor 1 (IF1) is a mitochondrial protein that blocks the reversal of the F1Fo-ATPsynthase, preventing dissipation of cellular ATP and ischemic damage. IF1 suppresses programmed cell death, enhancing tumor invasion and chemoresistance, and is expressed in various types of human cancers. In this study, we examined its effect on mitochondrial redox balance and apoptotic cristae remodeling, finding that, by maintaining ATP levels, IF1 reduces glutathione (GSH) consumption and inactivation of peroxiredoxin 3 (Prx3) during apoptosis...
February 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28215579/mitochondrial-dna-maintenance-defects
#15
REVIEW
Ayman W El-Hattab, William J Craigen, Fernando Scaglia
The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-encoded proteins including a battery of enzymes forming the replisome needed to synthesize mtDNA. These enzymes need to be in balanced quantities to function properly that is in part achieved by exchanging intramitochondrial contents through mitochondrial fusion. In addition, mtDNA synthesis requires a balanced supply of nucleotides that is achieved by nucleotide recycling inside the mitochondria and import from the cytosol. Mitochondrial DNA maintenance defects (MDMDs) are a group of diseases caused by pathogenic variants in the nuclear genes involved in mtDNA maintenance resulting in impaired mtDNA synthesis leading to quantitative (mtDNA depletion) and qualitative (multiple mtDNA deletions) defects in mtDNA...
February 16, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28177702/modulation-of-mitochondrial-biomarkers-by-intermittent-hypobaric-hypoxia-and-aerobic-exercise-after-eccentric-exercise-in-trained-rats
#16
David Rizo-Roca, Juan Gabriel Ríos-Kristjánsson, Cristian Núñez-Espinosa, Estela Santos-Alves, José Magalhães, António Ascensão, Teresa Pagès, Ginés Viscor, Joan Ramon Torrella
Unaccustomed eccentric contractions induce muscle damage, calcium homeostasis disruption and mitochondrial alterations. Since exercise and hypoxia are known to modulate mitochondrial function, we aimed to analyze the effects on eccentric exercise-induced muscle damage (EEIMD), in trained rats, of two recovery protocols based on: 1) intermittent hypobaric hypoxia (IHH) and 2) IHH followed by exercise. The expression of biomarkers related to mitochondrial biogenesis, dynamics, oxidative stress and bioenergetics was evaluated...
February 2, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28174208/l-opa1-regulates-mitoflash-biogenesis-independently-from-membrane-fusion
#17
Manon Rosselin, Jaime Santo-Domingo, Flavien Bermont, Marta Giacomello, Nicolas Demaurex
Mitochondrial flashes mediated by optic atrophy 1 (OPA1) fusion protein are bioenergetic responses to stochastic drops in mitochondrial membrane potential (Δψm) whose origin is unclear. Using structurally distinct genetically encoded pH-sensitive probes, we confirm that flashes are matrix alkalinization transients, thereby establishing the pH nature of these events, which we renamed "mitopHlashes". Probes located in cristae or intermembrane space as verified by electron microscopy do not report pH changes during Δψm drops or respiratory chain inhibition...
March 2017: EMBO Reports
https://www.readbyqxmd.com/read/28159969/targeted-metabolomics-reveals-early-dominant-optic-atrophy-signature-in-optic-nerves-of-opa1delttag-mice
#18
Juan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, Tanguy Chaumette, Guillaume Rousseau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Marc Ferré, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Stéphanie Leruez, Christophe Verny, Dan Miléa, Dominique Bonneau, Patrizia Amati-Bonneau, Vincent Procaccio, Christian Hamel, Guy Lenaers, Pascal Reynier, Delphine Prunier-Mirebeau
Purpose: Dominant optic atrophy (MIM No. 165500) is a blinding condition related to mutations in OPA1, a gene encoding a large GTPase involved in mitochondrial inner membrane dynamics. Although several mouse models mimicking the disease have been developed, the pathophysiological mechanisms responsible for retinal ganglion cell degeneration remain poorly understood. Methods: Using a targeted metabolomic approach, we measured the concentrations of 188 metabolites in nine tissues, that is, brain, three types of skeletal muscle, heart, liver, retina, optic nerve, and plasma in symptomatic 11-month-old Opa1delTTAG/+ mice...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28158949/methionine-sulfoxide-reductase-a-deficiency-exacerbates-cisplatin-induced-nephrotoxicity-via-increased-mitochondrial-damage-and-renal-cell-death
#19
Mi Ra Noh, Ki Young Kim, Sang Jun Han, Jee In Kim, Hwa-Young Kim, Kwon Moo Park
AIMS: Methionine sulfoxide reductase A (MsrA), which is abundantly localized in the mitochondria, reduces methionine-S-sulfoxide, scavenging reactive oxygen species (ROS). Cisplatin, an anticancer drug, accumulates at high levels in the mitochondria of renal cells, causing mitochondrial impairment that ultimately leads to nephrotoxicity. Here, we investigated the role of MsrA in cisplatin-induced mitochondrial damage and kidney cell death using MsrA gene-deleted (MsrA(-/-)) mice. RESULTS: Cisplatin injection resulted in increases of ROS production, methionine oxidation, and oxidative damage in the kidneys...
March 20, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28146064/pm2-5-induced-oxidative-stress-and-mitochondrial-damage-in-the-nasal-mucosa-of-rats
#20
Zhiqiang Guo, Zhicong Hong, Weiyang Dong, Congrui Deng, Renwu Zhao, Jian Xu, Guoshun Zhuang, Ruxin Zhang
Exposure to PM2.5 (particulate matter ≤2.5 μm) increases the risk of nasal lesions, but the underlying mechanisms, especially the mechanisms leading to mitochondrial damage, are still unclear. Thus, we investigated the in vivo effects of PM2.5 exposure on the inflammatory response, oxidative stress, the enzyme activities of Na⁺K⁺-ATPase and Ca(2+)-ATPase, and the morphology and function of mitochondria in the nasal mucosa of rats. Exposure to PM2.5 occurred through inhalation of a PM2.5 solution aerosol...
January 29, 2017: International Journal of Environmental Research and Public Health
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