Ethnogenetic analysis reveals that Kohistanis of Pakistan were genetically linked to west Eurasians by a probable ancestral genepool from Eurasian steppe in the bronze age
Publication date: Available online 16 May 2019Source: MitochondrionAuthor(s): Sawar Khan, Habib Ahmad, Mian Sayed Khan, Sardar Azhar Mehmood, Ayesha Nisar, Xingang FengAbstractDespite the unique geographic, ethnic, social and cultural features of Kohistan in Pakistan, the origin and descent of Kohistanis remain still obscure. In an effort to address questions concerning the genetic structure, origin and genetic affinities of Kohistanis, we herein applied an ethnogenetic approach consisting on mitochondrial DNA (mtDNA) analysis and dental morphology analysis. We sequenced HVS1 of mtDNA, observed 14 haplotypes and assigned a...
Source: Mitochondrion - May 18, 2019 Category: Biochemistry Source Type: research

Mitochondrial interaction with the endosomal compartment in endocytosis and mitochondrial transfer
Publication date: Available online 14 May 2019Source: MitochondrionAuthor(s): Kiran Todkar, Lilia Chikhi, Marc GermainAbstractMitochondria are essential organelles required for cellular processes ranging from energy production to cellular differentiation. To perform these functions, mitochondria physically and functionally interact with other organelles such as the endoplasmic reticulum (ER) and endosomes. While the role of ER-mitochondria contact sites is well established, the interaction between mitochondria and endosomes has only recently been reported. These interactions are involved in lipid and ion transfer and poten...
Source: Mitochondrion - May 16, 2019 Category: Biochemistry Source Type: research

PDE2 regulates membrane potential, respiration and permeability transition of rodent subsarcolemmal cardiac mitochondria
Publication date: Available online 15 May 2019Source: MitochondrionAuthor(s): Liu Dawei, Wang Zhenyu, Nicolas Valérie, Lindner Marta, Mika Delphine, Vandecasteele Grégoire, Fischmeister Rodolphe, Brenner CatherineAbstractCyclic adenosine monophosphate (cAMP) production regulates certain aspects of mitochondria function in rodent cardiomyocytes, such as ATP production, oxygen consumption, calcium import and mitochondrial permeability transition (MPT), but how this cAMP pool is controlled is not well known. Here, expression, localization and activity of several cAMP-degrading enzymes, i.e. phosphodiesterases (P...
Source: Mitochondrion - May 16, 2019 Category: Biochemistry Source Type: research

Involvement of increased p53 expression in the decrease of mitochondrial DNA copy number and increase of SUVmax of FDG-PET scan in esophageal squamous cell carcinoma
Publication date: Available online 6 May 2019Source: MitochondrionAuthor(s): Chen-Sung Lin, Yu-Yi Huang, Siao-Cian Pan, Chih-Tao Cheng, Chia-Chuan Liu, Chih-Hsun Shih, Hsiang-Ling Ho, Yi-Chen Yeh, Teh-Ying Chou, Ming-Yuan Lee, Yau-Huei WeiAbstractWe appraised Warburg effect through analysis of mitochondrial DNA (mtDNA) copy number and maximum standard uptake value (SUVmax) of 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) scan and their alterations in esophageal squamous cell carcinoma (ESCC). Later T-status and longer longitudinal tumor length was associated with lower mtDNAESCC copy number (p 
Source: Mitochondrion - May 7, 2019 Category: Biochemistry Source Type: research

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency
We present a third case with complex I deficiency associated with novel mutations in SFXN4. Our patient presented with intrauterine growth retardation, neonatal lactic acidosis, and developed macrocytic anemia and optic nerve hypoplasia. Muscle mitochondrial investigations revealed ultrastructural abnormalities, severe deficiency of complex I enzyme activity, and loss of subunit proteins. Whole-exome sequencing revealed bi-allelic SFXN4 mutations: a 1-base deletion, c.969delG, leading to frameshift and a premature stop codon, p.(Gln323Hisfs*20), and a stop-loss mutation in the C-terminal region, c.1012 T > C; p.(*...
Source: Mitochondrion - May 4, 2019 Category: Biochemistry Source Type: research

Mitochondrial oxidative phosphorylation capacity of cryopreserved cells
Publication date: Available online 30 April 2019Source: MitochondrionAuthor(s): Poul Ejner Lauridsen, Lene Juel Rasmussen, Claus DeslerAbstractDefects in mitochondrial oxidative phosphorylation are a feature of many human diseases. To date, determination of oxidative phosphorylation has required fresh and live sample material and therefore also access to specialized equipment and trained personnel. Cryopreservation of samples is an attractive alternative, where samples can be collected and stored in an economic and practical fashion for later bulk assays. Here, we present an accurate, reliable method for estimating mitocho...
Source: Mitochondrion - May 1, 2019 Category: Biochemistry Source Type: research

Proteolytic regulation of mitochondrial dynamics
Publication date: Available online 25 April 2019Source: MitochondrionAuthor(s): Jonathan V. Dietz, Iryna Bohovych, Martonio Ponte Viana, Oleh KhalimonchukAbstractSpatiotemporal changes in the abundance, shape, and cellular localization of the mitochondrial network, also known as mitochondrial dynamics, are now widely recognized to play a key role in mitochondrial and cellular physiology as well as disease states. This process involves coordinated remodeling of the outer and inner mitochondrial membranes by conserved dynamin-like guanosine triphosphatases and their partner molecules in response to various physiological and ...
Source: Mitochondrion - April 26, 2019 Category: Biochemistry Source Type: research

Overview of thioredoxin system and targeted therapies for acute leukemia
Publication date: Available online 25 April 2019Source: MitochondrionAuthor(s): Weiling Xie, Weijie Ma, Pan Liu, Fuling ZhouAbstractThe thioredoxin (Trx) system is a major antioxidant system for keeping the intracellular redox state in almost all forms of life, including Trx, Trx reductase (TrxR) and NADPH. It regulates many signaling pathways related to antioxidative action, growth promotion, anti-apoptosis, cell migration, inflammatory modulation, immune function, etc. The oxidative stress has been proved to promote cancer occurrence and the readjustment of Trx system. Considerable results have demonstrated overexpressio...
Source: Mitochondrion - April 26, 2019 Category: Biochemistry Source Type: research

Whole mitochondria genome mutational spectrum in occupationally exposed lead subjects
Publication date: Available online 25 April 2019Source: MitochondrionAuthor(s): Monica Shirley Mani, Sanjiban Chakrabarty, Sandeep P. Mallya, Shama Prasada Kabekkodu, Pradyumna Jayaram, Vinay Koshy Varghese, Herman Sunil Dsouza, Kapaettu SatyamoorthyAbstractLead is a public health hazard substance affecting millions of people worldwide especially those who are occupationally exposed. Our study aimed to investigate the effect of occupational lead exposure on mitochondria DNA (mtDNA). By sequencing the whole mitochondria genome, we identified 25 unique variants in lead exposed subjects affecting 10 protein coding genes in th...
Source: Mitochondrion - April 26, 2019 Category: Biochemistry Source Type: research

Editorial Board
Publication date: May 2019Source: Mitochondrion, Volume 46Author(s): (Source: Mitochondrion)
Source: Mitochondrion - April 26, 2019 Category: Biochemistry Source Type: research

Myasthenia gravis like symptoms associated with rare mitochondrial mutation (m.5728T>C)
We report here on a patient who presented with myasthenia gravis type symptoms (fatigable ptosis, increased jitter on single fiber EMG, and a thymic mass) who was subsequently diagnosed with a mitochondrial myopathy. Sequencing of the mitochondrial genome (mtDNA) identified a transition variant in the tRNA asparagine gene (MT-TN) (m.5728T>C) at in 41% of mtDNA molecules in muscle tissue. The variant was not detectable in blood. The m.5728T>C variant has been reported previously in a ten year old male with global developmental delays, failure to thrive, ataxia, weakness, cognitive regression, seizures, and glomerulosc...
Source: Mitochondrion - April 25, 2019 Category: Biochemistry Source Type: research

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
Publication date: Available online 22 April 2019Source: MitochondrionAuthor(s): Albert Lim, Emma L. Blakely, Karen Baty, Langping He, Sila Hopton, Gavin Falkous, Kenneth McWilliam, Alison Cozens, Robert McFarland, Robert W. TaylorAbstractMitochondrial DNA variants in the MT-TM (mt-tRNAMet) gene are rare, typically associated with myopathic phenotypes. We identified a novel MT-TM variant resulting in prolonged seizures with childhood-onset myopathy, retinopathy, short stature and elevated CSF lactate associated with bilateral basal ganglia changes on neuroimaging. Muscle biopsy confirmed multiple respiratory chain deficienc...
Source: Mitochondrion - April 23, 2019 Category: Biochemistry Source Type: research

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease
Publication date: Available online 20 April 2019Source: MitochondrionAuthor(s): Pascal R. de Vries, Mariska Janssen, Edwin Spaans, Imelda de Groot, Anjo Janssen, Jan Smeitink, Saskia KoeneAbstractIn this exploratory study we aimed to select the most valid and feasible accelerometer to measure daily physical activity at home in 10 children with mitochondrial disease. Using the experimentally-selected GENEActiv, good to excellent short- and long-term test-retest reliability of daily physical activity was found. Especially in children with more severe limitations daily physical activity seemed more stable and less susceptible...
Source: Mitochondrion - April 22, 2019 Category: Biochemistry Source Type: research

Leukocyte mitochondrial DNA copy number as a potential biomarker indicating poor outcome in biliary atresia and its association with oxidative DNA damage and telomere length
Publication date: Available online 20 April 2019Source: MitochondrionAuthor(s): Wanvisa Udomsinprasert, Yong Poovorawan, Voranush Chongsrisawat, Paisarn Vejchapipat, Jiraphun Jittikoon, Sittisak HonsawekAbstractBiliary atresia (BA) is a chronic obstructive liver disease, leading to advanced liver failure. Mitochondria dysfunction-mediated aberrant telomere length has been implicated in various pathological processes including cholestasis. Herein, we aimed to investigate associations between mitochondrial DNA (mtDNA) copy number, oxidative DNA damage, telomere length, and disease severity in BA patients. mtDNA copy number a...
Source: Mitochondrion - April 22, 2019 Category: Biochemistry Source Type: research

A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent
We present a 14-year-old girl with loss of motor functions, tetraplegia, epilepsy and nystagmus, caused by a novel heteroplasmic m.641A>T transition in an evolutionary conserved region of mitochondrial genome, affecting the aminoacyl stem of mitochondrial tRNA-Phe. In silico prediction, respirometry, Western blot and enzymatic analyses in skin fibroblasts support the pathogenicity of the m.641A>T substitution.This is the 18th MT-TF point mutation associated with a mitochondrial disorder. The onset and the severity of the disease, however, is unique in this case and broadens the clinical picture related to mutations o...
Source: Mitochondrion - April 20, 2019 Category: Biochemistry Source Type: research

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene
Publication date: Available online 12 April 2019Source: MitochondrionAuthor(s): Silvia Marchet, Federica Invernizzi, Flavia Blasevich, Valentina Bruno, Sabrina Dusi, Paola Venco, Chiara Fiorillo, Giovanni Baranello, Francesco Pallotti, Eleonora Lamantea, Marina Mora, Valeria Tiranti, Costanza LampertiAbstractCongenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and mitochondrial network in cells derived from Ita...
Source: Mitochondrion - April 13, 2019 Category: Biochemistry Source Type: research

Effects of air pollution on mitochondrial function, mitochondrial DNA methylation, and mitochondrial peptide expression
Publication date: Available online 10 April 2019Source: MitochondrionAuthor(s): Carrie V. Breton, Ashley Y. Song, Jialin Xiao, Su-Jeong Kim, Hemal H. Mehta, Junxiang Wan, Kelvin Yen, Constantinos Sioutas, Fred Lurmann, Shanyan Xue, Todd E. Morgan, Junfeng Zhang, Pinchas CohenAbstractMitochondrial DNA is sensitive to damage by exogenous reactive oxygen sources, including traffic-related air pollution (TRAP). Given the important role for mitochondria in human disease, we hypothesized that prenatal air pollution exposure may be associated with mitochondrial dysfunction and that mitochondrial-derived peptides (MDPs) might prot...
Source: Mitochondrion - April 11, 2019 Category: Biochemistry Source Type: research

Intramitochondrial transfer and engineering of mammalian mitochondrial genomes in yeast
Publication date: Available online 11 April 2019Source: MitochondrionAuthor(s): Young Geol Yoon, Michael D. KoobAbstractMitochondrial genomes (mtDNA) depend on the nuclear genome with which they have evolved to provide essential replication functions and have been known to replicate as xenotransplants only in the cells of closely related species. We now report that complete mouse mitochondrial genomes can be stably transplanted into the mitochondrial network in yeast devoid of their own mtDNA. Our analyses of these xenomitochondrial yeast cells show that they are accurately replicating intact mouse mtDNA genomes without re...
Source: Mitochondrion - April 11, 2019 Category: Biochemistry Source Type: research

The first direct activity assay for the mitochondrial protease OMA1
Publication date: Available online 26 March 2019Source: MitochondrionAuthor(s): Julia Tobacyk, Nirmala Parajuli, Stephen Shrum, John P. Crow, Lee Ann MacMillan-CrowAbstractMitochondria continually undergo fission and fusion which allow mitochondria to rapidly change their shape, size, and function throughout the cell life cycle. OMA1, a zinc metalloproteinase enzyme, is a key regulator of the mitochondrial fusion machinery. The paucity of information regarding OMA1 regulation and function largely stems from the fact that there is no direct method to quantitatively measure its activity. Using a fluorescence-based reporter a...
Source: Mitochondrion - March 27, 2019 Category: Biochemistry Source Type: research

A proteomic analysis of Caenorhabditis elegans mitochondria during bacterial infection
This study evaluated the specific response and proteomic changes in host Caenorhabditis elegans mitochondria during Pseudomonas aeruginosa PAO1 infection. We performed an inclusive approach to determine the C. elegans mitochondria proteome. The protein fractions of mitochondria were analysed by tandem LC-MS/MS, 129 differentially regulated proteins were identified, indicating an involvement of various mitochondrial processes. The several known components of the oxidative phosphorylation (OXPHOS) machinery, the tricarboxylic acid (TCA) cycle, mitochondrial unfolded protein response (UPRmt) and stable mitochondria-encoded pr...
Source: Mitochondrion - March 27, 2019 Category: Biochemistry Source Type: research

Mitochondrial genome variations in idiopathic dilated cardiomyopathy
Publication date: Available online 22 March 2019Source: MitochondrionAuthor(s): Periyasamy Govindaraj, Bindu Rani, Pandarisamy Sundaravadivel, Ayyasamy Vanniarajan, K.P. Indumathi, Nahid Akthar Khan, Perundurai S. Dhandapany, Deepa Selvi Rani, Rakesh Tamang, Ajay Bahl, Calambur Narasimhan, Dharma Rakshak, Andiappan Rathinavel, Kumpati Premkumar, Madhu Khullar, Kumarasamy ThangarajAbstractIdiopathic dilated cardiomyopathy (DCM) is a structural heart disease with strong genetic background. The aim of this study was to assess the role of mitochondrial DNA (mtDNA) variations and haplogroups in Indian DCM patients. Whole mtDNA ...
Source: Mitochondrion - March 23, 2019 Category: Biochemistry Source Type: research

Cardiomyocyte mitochondrial dysfunction in diabetes and its contribution in cardiac arrhythmogenesis
Publication date: Available online 21 March 2019Source: MitochondrionAuthor(s): Hamza El Hadi, Roberto Vettor, Marco RossatoAbstractCardiovascular disease is the leading cause of diabetes-related morbidity and mortality. It is widely accepted that heart failure risk is increased in diabetic patients even after adjusting for coronary artery disease and hypertension. Mitochondria are the center of fatty acid (FA) and glucose metabolism and thus are likely to be impacted by impaired metabolism associated with diabetes. Although the cause of this increased heart failure risk is multifactorial, increasing evidence points toward...
Source: Mitochondrion - March 22, 2019 Category: Biochemistry Source Type: research

Novel proteomic changes in brain mitochondria provide insights into mitochondrial dysfunction in mouse models of Huntington's disease
Publication date: Available online 20 March 2019Source: MitochondrionAuthor(s): Sonal Agrawal, Jonathan H. FoxAbstractHuntington's disease (HD) is a progressive ultimately fatal disorder caused by a glutamine-encoding CAG expansion in the huntingtin (HTT) gene that results in degeneration mainly in striatal and cerebro-cortical brain regions. Mitochondrial dysfunction is one important facet of HD pathogenesis. Here we used R6/2 and YAC128 HD mouse models of human HD, that express different HTT transgenes and have different progression rates, to identify HD brain mitochondrial proteomic signatures. Cerebral cortical mitocho...
Source: Mitochondrion - March 21, 2019 Category: Biochemistry Source Type: research

MitoMatters - Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction
Publication date: Available online 1 March 2019Source: MitochondrionAuthor(s): Célia Nogueira, Lisbeth Silva, Cristina Pereira, Luís Vieira, Elisa Leão Teles, Esmeralda Rodrigues, Teresa Campos, Patrícia Janeiro, Ana Gaspar, Juliette Dupont, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Sílvia Sequeira, José Pedro Vieira, Helena Santos, Sílvia Vilarinho, Laura VilarinhoAbstractMitochondrial diseases (MD) are a group of rare inherited disorders, characterized by phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study was...
Source: Mitochondrion - March 4, 2019 Category: Biochemistry Source Type: research

Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions
Publication date: Available online 22 February 2019Source: MitochondrionAuthor(s): Aziza A.A. Adam, Vincent A. van der Mark, Jos P.N. Ruiter, Ronald J.A. Wanders, Ronald P.J. Oude Elferink, Robert A.F.M. Chamuleau, Ruurdtje HoekstraAbstractHyperammonemia is an important contributing factor to hepatic encephalopathy in end-stage liver failure patients. Therefore reducing hyperammonemia is a requisite of bioartificial liver support (BAL).Ammonia elimination by human liver HepaRG cells occurs predominantly through reversible fixation into amino acids, whereas the irreversible conversion into urea is limited. Compared to human...
Source: Mitochondrion - February 23, 2019 Category: Biochemistry Source Type: research

Editorial Board
Publication date: March 2019Source: Mitochondrion, Volume 45Author(s): (Source: Mitochondrion)
Source: Mitochondrion - February 16, 2019 Category: Biochemistry Source Type: research

Forms of extracellular mitochondria and their impact in health
Publication date: Available online 14 February 2019Source: MitochondrionAuthor(s): Sophia Miliotis, Bryan Nicolalde, Mayra Ortega, Jackie Yepez, Andrés CaicedoAbstractMitochondria play an important role as an intracellular energy plant and signaling organelle. However, mitochondria also exist outside cells where they could mediate cell-to-cell communication, repair and serve as an activator of the immune response. Their effects depend on the mitochondrial state or the form in which it is present, either as a whole functional structure as fragments or only as mitochondrial DNA. Herein, we provide evidence of why extr...
Source: Mitochondrion - February 14, 2019 Category: Biochemistry Source Type: research

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1
We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations. (Source: Mitochondrion)
Source: Mitochondrion - February 9, 2019 Category: Biochemistry Source Type: research

MtBrowse: An integrative genomics browser for human mitochondrial DNA
Publication date: Available online 7 February 2019Source: MitochondrionAuthor(s): Vipin Singh, Bani Jolly, Neeraj K. Rajput, Sayan Pramanik, Anshu BhardwajAbstractThe human mitochondrion is a unique semi-autonomous organelle with a genome of its own and also requires nuclear encoded components to carry out its functions. In addition to being the powerhouse of the cell, mitochondria plays a central role in several metabolic pathways. It is therefore challenging to delineate the cause-effect relationship in context of mitochondrial dysfunction. Several studies implicate mutations in mitochondrial DNA (mtDNA) in various compl...
Source: Mitochondrion - February 7, 2019 Category: Biochemistry Source Type: research

Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease
Publication date: Available online 7 February 2019Source: MitochondrionAuthor(s): Yasutoshi Koga, Nataliya Povalko, Eisuke Inoue, Kazutaka Nashiki, Masashi TanakaAbstractBiomarkers and two clinical rating scales—the Japanese mitochondrial disease-rating scale (JMDRS) and Newcastle mitochondrial disease adult scale (NMDAS)—are clinically used when treating patients with mitochondrial disease. We explored the biomarker(s) and clinical rating scale(s) that are appropriate in preparing the protocol for a future clinical trial of sodium pyruvate (SP) therapy. A 48-week, prospective, single-centre, exploratory, clini...
Source: Mitochondrion - February 7, 2019 Category: Biochemistry Source Type: research

Withaferin A-mediated apoptosis in breast cancer cells is associated with alterations in mitochondrial dynamics
This study extends these observations to now demonstrate alterations in mitochondrial dynamics in WA-induced apoptosis. Assembly of complex III was decreased in MCF-7 and SUM159 cells but not in MDA-MB-231 as determined by native blue gel electrophoresis. Because WA is a Michael acceptor (electrophile), we explored the possibility of whether it covalently modifies cysteine residue(s) in ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1). Covalent modification of cysteine in UQCRFS1 was not observed after WA treatment. Instead, WA treatment inhibited chemically-induced mitochondrial fusion and decr...
Source: Mitochondrion - January 25, 2019 Category: Biochemistry Source Type: research

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1
Publication date: Available online 22 January 2019Source: MitochondrionAuthor(s): Ivo Eijkenboom, Jo M. Vanoevelen, Janneke G.J. Hoeijmakers, Iris Wijnen, Mike Gerards, Catharina G. Faber, Hubert J.M. SmeetsAbstractMutations in genes involved in mitochondrial dynamics (fusion and fission) have been implicated in many peripheral neuropathies. We hypothesized that defects in these genes could result in a phenotype resembling features of small-fiber neuropathy (SFN). This was investigated in zebrafish by knocking down two genes involved in mitochondrial dynamics gdap1 (possibly fission and motility) and opa1 (fusion) using es...
Source: Mitochondrion - January 22, 2019 Category: Biochemistry Source Type: research

The relevance of the supramolecular arrangements of the respiratory chain complexes in human diseases and aging
Publication date: Available online 18 January 2019Source: MitochondrionAuthor(s): I. Ramírez-Camacho, O. Flores-Herrera, C. ZazuetaAbstractMitochondrial dysfunction, a common factor in several diseases is accompanied with reactive oxygen species (ROS) production. These molecules react with proteins and lipids at their site of generation, establishing a vicious cycle which might result in further mitochondrial injury.It is well established that mitochondrial respiratory complexes can be organized into supramolecular structures called supercomplexes (SCs) or respirasomes; yet, the physiological/pathological relevance ...
Source: Mitochondrion - January 20, 2019 Category: Biochemistry Source Type: research

Mutation in Cytochrome B gene causes debility and adverse effects on health of sheep
Publication date: Available online 17 January 2019Source: MitochondrionAuthor(s): Aruna Pal, Abantika Pal, Samiddha Banerjee, S. Batobyal, P.N. ChatterjeeAbstractCytochrome B is the mitochondrial protein, which functions as part of the electron transport chain and is the main subunit of transmembrane cytochrome bc1 and b6f complexes affecting energy metabolism through oxidative phosphorylation. The present study was conducted to study the effect of mutation of Cytochrome B gene on the health condition of sheep, which the first report of association of mitochondrial gene with disease traits in livestock species. Non-synonym...
Source: Mitochondrion - January 18, 2019 Category: Biochemistry Source Type: research

Splitting the functions of Rim2, a mitochondrial iron/pyrimidine carrier
Publication date: Available online 18 January 2019Source: MitochondrionAuthor(s): Simon A.B. Knight, Heeyong Yoon, Ashutosh K. Pandey, Jayashree Pain, Debkumar Pain, Andrew DancisAbstractRim2 is an unusual mitochondrial carrier protein capable of transporting both iron and pyrimidine nucleotides. Here we characterize two point mutations generated in the predicted substrate-binding site, finding that they yield disparate effects on iron and pyrimidine transport. The Rim2 (E248A) mutant was deficient in mitochondrial iron transport activity. By contrast, the Rim2 (K299A) mutant specifically abrogated pyrimidine nucleotide tr...
Source: Mitochondrion - January 18, 2019 Category: Biochemistry Source Type: research

Hypoxia-reoxygenation of primary astrocytes results in a redistribution of mitochondrial size and mitophagy
The objective of this study is to assess astrocyte mitochondrial competence during hypoxia and post-hypoxia reoxygenation and to determine cellular adaptive and pathological changes in the mitochondrial network. We hypothesize that during metabolic distress in astrocytes; mitochondrial networks undergo a shift in fission-fusion dynamics that results in a change in the morphometric state of the entire mitochondrial network. This mitochondrial network shift may be protective during metabolic distress by priming mitochondrial size and facilitating mitophagy. We demonstrated that hypoxia and post-hypoxia reoxygenation of rat p...
Source: Mitochondrion - December 28, 2018 Category: Biochemistry Source Type: research

Editorial Board
Publication date: January 2019Source: Mitochondrion, Volume 44Author(s): (Source: Mitochondrion)
Source: Mitochondrion - December 28, 2018 Category: Biochemistry Source Type: research

Increased energetic demand supported by mitochondrial electron transfer chain and astrocyte assistance is essential to maintain the compensatory ability of the dopaminergic neurons in an animal model of early Parkinson's disease
Publication date: Available online 20 December 2018Source: MitochondrionAuthor(s): Katarzyna Kuter, Łukasz Olech, Norbert A. DencherAbstractPartial degeneration of dopaminergic neurons in the substantia nigra (SN), induces locomotor disability in animals but with time it is spontaneously compensated for by neurons surviving in the tissue by increasing their functional efficiency. Such compensation probably increases energy requirements and astrocyte support could be essential for this ability.We studied the effect of degeneration of dopaminergic neurons induced by the selective toxin 6-hydroxydopamine and/or death of 30% ...
Source: Mitochondrion - December 20, 2018 Category: Biochemistry Source Type: research

Circulating mitochondria DNA, a non-invasive cancer diagnostic biomarker candidate
Publication date: Available online 16 December 2018Source: MitochondrionAuthor(s): Justice Afrifa, Tie Zhao, Jingcui YuAbstractThe mitochondria are defined by their unique structure and cellular functions which includes energy production, metabolic regulation, apoptosis, calcium homeostasis, cell proliferation, cell motility and transport as well as free radical generation. Recent advances geared towards enhancing the diagnostic and prognostic value of cancer patients have targeted the circulating mitochondria genome due to its specific and unique characteristics. Circulating mitochondria DNA is known to possess short leng...
Source: Mitochondrion - December 16, 2018 Category: Biochemistry Source Type: research

Temporal profile of serum mitochondrial DNA (mtDNA) in patients with aneurysmal subarachnoid hemorrhage (aSAH)
Publication date: Available online 5 December 2018Source: MitochondrionAuthor(s): Shafqat Rasul Chaudhry, Stilla Frede, Gerald Seifert, Thomas Mehari Kinfe, Mika Niemelä, Alf Lamprecht, Sajjad MuhammadAbstractAneurysmal subarachnoid hemorrhage (aSAH) is a highly complex disease. Majority of aSAH survivors confront post-SAH complications including cerebral vasospasm (CVS) and delayed cerebral ischemia (DCI) that mainly influence the clinical outcome. Tissue damage during early brain injury may lead to release of damage associated molecular pattern molecules (DAMPs) that may initiate and sustain inflammation during the ...
Source: Mitochondrion - December 6, 2018 Category: Biochemistry Source Type: research

Editorial Board
Publication date: November 2018Source: Mitochondrion, Volume 43Author(s): (Source: Mitochondrion)
Source: Mitochondrion - November 21, 2018 Category: Biochemistry Source Type: research

Calcium phosphate buffer formed in the mitochondrial matrix during preconditioning supports ΔpH formation and ischemic ATP production and prolongs cell survival –A hypothesis
Publication date: Available online 15 November 2018Source: MitochondrionAuthor(s): Krzysztof DolowyAbstractIschemic preconditioning makes cells less sensitive to oxygen deprivation. A similar effect can be achieved by increasing the calcium concentration and applying potassium channel openers. A hypothetical mechanism of preconditioning is presented. In the mitochondrial matrix, there is a calcium hydroxide buffer consisting of a few insoluble calcium phosphate minerals. During ischemia, calcium ions stored in the matrix buffer start to leak out, forming an electric potential difference, while hydroxyl ions remain in the m...
Source: Mitochondrion - November 16, 2018 Category: Biochemistry Source Type: research

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort
Publication date: Available online 10 November 2018Source: MitochondrionAuthor(s): Piekutowska-Abramczuk Dorota, Kaliszewska Magdalena, Sułek Anna, Jurkowska Natalia, Ołtarzewski Mariusz, Jabłońska Ewa, Trubicka Joanna, Głowacka Aleksandra, Ciara Elżbieta, Kowalski Paweł, Langiewicz-Wojciechowska Karolina, Tesarova Marketa, Zeman Jiri, Kierdaszuk Biruta, Kuczyński Dariusz, Chmielewski Dariusz, Szymańska Edyta, Bakuła Agnieszka, Lusakowska Anna, Lipowska MartaAbstractDiseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecu...
Source: Mitochondrion - November 11, 2018 Category: Biochemistry Source Type: research

Assessment of associations between mitochondrial DNA haplogroups and attention deficit and hyperactivity disorder in Korean children
Publication date: Available online 10 November 2018Source: MitochondrionAuthor(s): In Wook Hwang, Bit Na Kwon, Hyung Jun Kim, Seung Hun Han, Noo Ri Lee, Myung Ho Lim, Ho Jang Kwon, Han Jun JinAbstractAttention deficit hyperactivity disorder (ADHD) is a multifactorial disorder with multiple environmental and biological etiologies, including genetic factors. Until now, several genetic variants have been reported to be significantly associated with ADHD. Recently, the relationship between mitochondrial DNA (mtDNA) haplogroups and psychiatric disorders such as schizophrenia has also been reported. However, currently there are ...
Source: Mitochondrion - November 11, 2018 Category: Biochemistry Source Type: research

Mitochondrial dysfunction and gut microbiota imbalance: An intriguing relationship in chronic kidney disease
Publication date: Available online 5 November 2018Source: MitochondrionAuthor(s): Denise Mafra, Natália Alvarenga Borges, Bengt Lindholm, Peter Stenvinkel (Source: Mitochondrion)
Source: Mitochondrion - November 6, 2018 Category: Biochemistry Source Type: research

Mitochondrial dynamics, a key executioner in neurodegenerative diseases
Publication date: Available online 5 November 2018Source: MitochondrionAuthor(s): Komal Panchal, Anand Krishna TiwariAbstractNeurodegenerative diseases (NDs) are the group of disorder that includes brain, peripheral nerves, spinal cord and results in sensory and motor neuron dysfunction. Several studies have shown that mitochondrial dynamics and their axonal transport play a central role in most common NDs such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD) and Amyotrophic Lateral Sclerosis (ALS) etc. In normal physiological condition, there is a balance between mitochondrial fission and f...
Source: Mitochondrion - November 6, 2018 Category: Biochemistry Source Type: research

Mito-nuclear interactions modify Drosophila exercise performance
Publication date: Available online 6 November 2018Source: MitochondrionAuthor(s): Alyson Sujkowski, Adam N. Spierer, Thiviya Rajagopalan, Brian Bazzell, Maryam Safdar, Dinko Imsirovic, Robert Arking, David Rand, Robert WessellsAbstractEndurance exercise has received increasing attention as a broadly preventative measure against age-related disease and dysfunction. Improvement of mitochondrial quality by enhancement of mitochondrial turnover is thought to be among the important molecular mechanisms underpinning the benefits of exercise. Interactions between the mitochondrial and nuclear genomes are important components of t...
Source: Mitochondrion - November 6, 2018 Category: Biochemistry Source Type: research

Evidence that thiol group modification and reactive oxygen species are involved in hydrogen sulfide-induced mitochondrial permeability transition pore opening in rat cerebellum
We report here the effects of hydrogen sulfide (sulfide), that accumulates in ETHE1 deficiency, in rat cerebellum. Sulfide impaired electron transfer and oxidative phosphorylation. Sulfide also induced mitochondrial swelling, and decreased ΔΨm and calcium retention capacity in cerebellum mitochondria, which were prevented by cyclosporine A (CsA) plus ADP, and ruthenium red, suggesting mitochondrial permeability transition (mPT) induction. Melatonin (MEL) and N-ethylmaleimide also prevented sulfide-induced alterations. Prevention of sulfide-induced decrease of ΔΨm and viability by CsA and MEL was further...
Source: Mitochondrion - November 4, 2018 Category: Biochemistry Source Type: research

Peroxynitrite nitrates adenine nucleotide translocase and Voltage-Dependent Anion Channel 1 and alters their interactions and association with hexokinase II in mitochondria
In this study, we explored whether IR injury in isolated hearts induces tyrosine nitration of adenine nucleotide translocase (ANT) and alters its interaction with the voltage-dependent anion channel 1 (VDAC1). We found that IR injury induced tyrosine nitration of ANT and that exposure of isolated cardiac mitochondria to ONOO− induced ANT tyrosine, Y81, nitration. The exposure of isolated cardiac mitochondria to ONOO− also led ANT to form high molecular weight proteins and dissociation of ANT from VDAC1. We also found that IR injury in isolated hearts, hypoxic injury in H9c2 cells, and ONOO− treatment of H...
Source: Mitochondrion - November 2, 2018 Category: Biochemistry Source Type: research

Cardiac mitochondrial structure and function in tafazzin-knockdown mice
Publication date: Available online 30 October 2018Source: MitochondrionAuthor(s): Junhwan Kim, Kwangwon Lee, Hisashi Fujioka, Bernard Tandler, Charles L. HoppelAbstractMutations in the tafazzin gene are the basis of Barth syndrome. The tafazzin protein is responsible for the synthesis of cardiolipin. Doxycycline-induced tafazzin-knockdown mice have been used as a model for Barth syndrome. In the current study, we examined subsarcolemmal and interfibrillar mitochondria from hearts of tafazzin-knockdown mice, focusing on mitochondrial ultrastructure, oxidative phosphorylation, electron transport chain complex activity, and p...
Source: Mitochondrion - October 30, 2018 Category: Biochemistry Source Type: research