Genomes and Genes
Experts and Doctors on mitochondria in Finland
- Bolszak M, Anttonen A, Komulainen T, Hinttala R, Pakanen S, Sormunen R, et al. Digenic mutations in severe myoclonic epilepsy of infancy. Epilepsy Res. 2009;85:300-4 pubmed publisher..Due to increased risk of valproate-induced liver failure in patients with POLG1 mutations, we recommend POLG1 gene analysis for SMEI patients before valproate administration. ..
- Manna P, Kero J, Tena Sempere M, Pakarinen P, Stocco D, Huhtaniemi I. Assessment of mechanisms of thyroid hormone action in mouse Leydig cells: regulation of the steroidogenic acute regulatory protein, steroidogenesis, and luteinizing hormone receptor function. Endocrinology. 2001;142:319-31 pubmed..Collectively, these observations further characterize the thyroid-gonadal connection and provide insights into the mechanisms for a dual regulatory role of thyroid hormone in Leydig cell functions. ..
- Jokipii Lukkari S, Kastaniotis A, Parkash V, Sundström R, Leiva Eriksson N, Nymalm Y, et al. Dual targeted poplar ferredoxin NADP(+) oxidoreductase interacts with hemoglobin 1. Plant Sci. 2016;247:138-49 pubmed publisher..The structural modelling results indicate that PttHb1 and PtthFNR are able to interact as NO dioxygenase. This is the first report on dual targeting of central plant enzyme FNR to plastids and cytosol. ..
- Finckenberg P, Eriksson O, Baumann M, Merasto S, Lalowski M, Levijoki J, et al. Caloric restriction ameliorates angiotensin II-induced mitochondrial remodeling and cardiac hypertrophy. Hypertension. 2012;59:76-84 pubmed publisher..The findings support the notion of modulating cardiac bioenergetics to ameliorate angiotensin II-induced cardiovascular complications. ..
- Toimela T, Tähti H. Mitochondrial viability and apoptosis induced by aluminum, mercuric mercury and methylmercury in cell lines of neural origin. Arch Toxicol. 2004;78:565-74 pubmed..The study emphasized the toxicity of methylmercury to neural cells and showed that aluminum alters various cellular activities. ..
- Sanz A, Stefanatos R. The mitochondrial free radical theory of aging: a critical view. Curr Aging Sci. 2008;1:10-21 pubmed..g. insulin signalling). If MFRTA is true animals producing fewer mtROS must have the ability to live much longer than their experimental controls. ..
- Hiltunen J, Qin Y. beta-oxidation - strategies for the metabolism of a wide variety of acyl-CoA esters. Biochim Biophys Acta. 2000;1484:117-28 pubmed
- Erkkila K, Pentikäinen V, Wikstrom M, Parvinen M, Dunkel L. Partial oxygen pressure and mitochondrial permeability transition affect germ cell apoptosis in the human testis. J Clin Endocrinol Metab. 1999;84:4253-9 pubmed..The present results imply that to improve germ cell viability in in vitro fertilization techniques, the partial oxygen pressure should be lowered. ..
- Blokhina O, Fagerstedt K. Reactive oxygen species and nitric oxide in plant mitochondria: origin and redundant regulatory systems. Physiol Plant. 2010;138:447-62 pubmed publisher..Mitochondrial ROS and NO production is tightly controlled by multiple redundant systems providing the regulatory mechanism for redox homeostasis and specific ROS/NO signaling. ..
- Mills E, Kelly B, Logan A, Costa A, Varma M, Bryant C, et al. Succinate Dehydrogenase Supports Metabolic Repurposing of Mitochondria to Drive Inflammatory Macrophages. Cell. 2016;167:457-470.e13 pubmed publisher..The metabolic alterations that occur upon activation of macrophages therefore repurpose mitochondria from ATP synthesis to ROS production in order to promote a pro-inflammatory state. ..
- Hiltunen J, Okubo F, Kursu V, Autio K, Kastaniotis A. Mitochondrial fatty acid synthesis and maintenance of respiratory competent mitochondria in yeast. Biochem Soc Trans. 2005;33:1162-5 pubmed..Finally, Hfa1p was shown to be the mitochondrial acetyl-CoA carboxylase. ..
- Kontro H, Hulmi J, Rahkila P, Kainulainen H. Cellular and tissue expression of DAPIT, a phylogenetically conserved peptide. Eur J Histochem. 2012;56:e18 pubmed publisher..We propose that DAPIT, in addition to indicated subunit of mitochondrial F-ATPase, is also a subunit of lysosomal V-ATPase suggesting that it is a common component in different proton pumps. ..
- Sanz A, Soikkeli M, Portero Otin M, Wilson A, Kemppainen E, McIlroy G, et al. Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction. Proc Natl Acad Sci U S A. 2010;107:9105-10 pubmed publisher..Our results support a central role of mitochondrial oxidative phosphorylation complex I in influencing longevity via oxidative stress, independently of pathways connected to nutrition and growth signaling. ..
- Koistinen P, Ruuska S, Saily M, Kakko S, Siitonen P, Siitonen T, et al. An association between manganese superoxide dismutase polymorphism and outcome of chemotherapy in acute myeloid leukemia. Haematologica. 2006;91:829-32 pubmed..These preliminary results may indicate an important role for genetic factors regulating the cellular redox state in determining the outcome of leukemia chemotherapy. ..
- Scialò F, Sriram A, Fernández Ayala D, Gubina N, Lõhmus M, Nelson G, et al. Mitochondrial ROS Produced via Reverse Electron Transport Extend Animal Lifespan. Cell Metab. 2016;23:725-34 pubmed publisher..These results illustrate that the source of a ROS signal is vital in determining its effects on cellular physiology and establish that manipulation of ubiquinone redox state is a valid strategy to delay aging. ..
- Toivonen J, O Dell K, Petit N, Irvine S, Knight G, Lehtonen M, et al. Technical knockout, a Drosophila model of mitochondrial deafness. Genetics. 2001;159:241-54 pubmed..We infer that the tko(25t) mutant provides a model of mitochondrial hearing impairment resulting from a quantitative deficiency of mitochondrial translational capacity. ..
- Helander H, Koivuranta K, Horelli Kuitunen N, Palvimo J, Palotie A, Hiltunen J. Molecular cloning and characterization of the human mitochondrial 2,4-dienoyl-CoA reductase gene (DECR). Genomics. 1997;46:112-9 pubmed..Through the use of FISH analysis on metaphase chromosomes with a genomic fragment of 2,4-dienoyl-CoA reductase, the gene was assigned to the chromosomal band 8q21.3. ..
- Wikstrom M, Hummer G. Stoichiometry of proton translocation by respiratory complex I and its mechanistic implications. Proc Natl Acad Sci U S A. 2012;109:4431-6 pubmed publisher..In a rough mechanistic model, we suggest a concerted proton translocation mechanism in the three homologous and tightly packed antiporter-like subunits L, M, and N of the proton-translocating membrane domain of complex I...
- Polianskyte Z, Peitsaro N, Dapkunas A, Liobikas J, Soliymani R, Lalowski M, et al. LACTB is a filament-forming protein localized in mitochondria. Proc Natl Acad Sci U S A. 2009;106:18960-5 pubmed publisher..We infer that LACTB, through polymerization, promotes intramitochondrial membrane organization and micro-compartmentalization. These findings have implications for our understanding of mitochondrial evolution and function. ..
- Söderström T, Poukkula M, Holmström T, Heiskanen K, Eriksson J. Mitogen-activated protein kinase/extracellular signal-regulated kinase signaling in activated T cells abrogates TRAIL-induced apoptosis upstream of the mitochondrial amplification loop and caspase-8. J Immunol. 2002;169:2851-60 pubmed..The results of this study show clearly that MAPK/ERK also participates in the inhibition of TRAIL-induced apoptosis after T cell activation. ..
- Ohman T, Lietzén N, Välimäki E, Melchjorsen J, Matikainen S, Nyman T. Cytosolic RNA recognition pathway activates 14-3-3 protein mediated signaling and caspase-dependent disruption of cytokeratin network in human keratinocytes. J Proteome Res. 2010;9:1549-64 pubmed publisher..In addition, we show that viral infection activates 14-3-3 protein mediated signaling pathways in human keratinocytes which suggest an important role of 14-3-3 proteins in antiviral innate immune response. ..
- Hiltunen J, Chen Z, Haapalainen A, Wierenga R, Kastaniotis A. Mitochondrial fatty acid synthesis--an adopted set of enzymes making a pathway of major importance for the cellular metabolism. Prog Lipid Res. 2010;49:27-45 pubmed publisher..The first publications linking mitochondrial FAS II to disease states in mammals are emerging. ..
- Zanotto E, Häkkinen A, Teku G, Shen B, Ribeiro A, Jacobs H. NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells. Biochim Biophys Acta. 2009;1789:432-42 pubmed publisher..Computational analysis confirmed that NF-Y type CCAAT boxes are found preferentially in bidirectional promoters, but many such promoters lack them and must be regulated in another way. ..
- Autio K, Kastaniotis A, Pospiech H, Miinalainen I, Schonauer M, Dieckmann C, et al. An ancient genetic link between vertebrate mitochondrial fatty acid synthesis and RNA processing. FASEB J. 2008;22:569-78 pubmed
- Sanz A, Fernandez Ayala D, Stefanatos R, Jacobs H. Mitochondrial ROS production correlates with, but does not directly regulate lifespan in Drosophila. Aging (Albany NY). 2010;2:200-23 pubmed..In summary, these results do not systematically support the predictions of the MFRTA. Accordingly, MFRTA should be revised to accommodate these findings. ..
- Syrjänen L, Tolvanen M, Hilvo M, Olatubosun A, Innocenti A, Scozzafava A, et al. Characterization of the first beta-class carbonic anhydrase from an arthropod (Drosophila melanogaster) and phylogenetic analysis of beta-class carbonic anhydrases in invertebrates. BMC Biochem. 2010;11:28 pubmed publisher..9 - 43.7 mM). The Drosophila beta-CA represents a highly active mitochondrial enzyme that is a potential model enzyme for anti-parasitic drug development. ..
- Nederlof R, Denis S, Lauzier B, Rosiers C, Laakso M, Hagen J, et al. Acute detachment of hexokinase II from mitochondria modestly increases oxygen consumption of the intact mouse heart. Metabolism. 2017;72:66-74 pubmed publisher..These results indicate that acute albeit not chronic changes in mitochondrial HKII modestly affect cardiac oxygen consumption and energy substrate metabolism. ..
- Kolikova J, Afzalov R, Surin A, Lehesjoki A, Khiroug L. Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis. Cell Calcium. 2011;50:491-501 pubmed publisher..Excitotoxic glutamate challenge caused Ca(2+) deregulation more readily in Cln8(mnd) than in wt neurons. We propose that neurodegeneration in human CLN8 disorders is primarily caused by reduced mitochondrial Ca(2+) buffering capacity. ..
- Landor S, Mutvei A, Mamaeva V, Jin S, Busk M, Borra R, et al. Hypo- and hyperactivated Notch signaling induce a glycolytic switch through distinct mechanisms. Proc Natl Acad Sci U S A. 2011;108:18814-9 pubmed publisher..In conclusion, our data reveal a role for Notch in cellular energy homeostasis, and show that Notch signaling is required for metabolic flexibility. ..
- Pätsi J, Maliniemi P, Pakanen S, Hinttala R, Uusimaa J, Majamaa K, et al. LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1. Biochim Biophys Acta. 2012;1817:312-8 pubmed publisher..In all, m.3376G>A perturbs ubiquinone binding, a phenomenon found in LHON, and decreases the activity of fully assembled complex I as in MELAS. ..
- Pirinen E, Kuulasmaa T, Pietilä M, Heikkinen S, Tusa M, Itkonen P, et al. Enhanced polyamine catabolism alters homeostatic control of white adipose tissue mass, energy expenditure, and glucose metabolism. Mol Cell Biol. 2007;27:4953-67 pubmed..The involvement of polyamine catabolism in the regulation of energy and glucose metabolism may offer a novel target for drug development for obesity and type 2 diabetes. ..
- Verho R, Richard P, Jonson P, Sundqvist L, Londesborough J, Penttila M. Identification of the first fungal NADP-GAPDH from Kluyveromyces lactis. Biochemistry. 2002;41:13833-8 pubmed..The presence of an asparagine (Asn46 in NADP-GAPDH) instead of the conserved aspartate found in related but NAD-specific enzymes may explain the ability of NADP-GAPDH to work with NADP as well as NAD...
- Solovyan V. Characterization of apoptotic pathway associated with caspase-independent excision of DNA loop domains. Exp Cell Res. 2007;313:1347-60 pubmed..Our results suggest that caspase-independent excision of chromatin loop domains represents a separate cell death pathway, which operates either in parallel or independently from caspase-dependent internucleosomal DNA fragmentation. ..
- Zanotto E, Shah Z, Jacobs H. The bidirectional promoter of two genes for the mitochondrial translational apparatus in mouse is regulated by an array of CCAAT boxes interacting with the transcription factor NF-Y. Nucleic Acids Res. 2007;35:664-77 pubmed..The inherently bidirectional activity of NF-Y makes it an especially suitable factor to govern promoters of this class, whose expression is linked to cell proliferation. ..
- Hietakangas V, Poukkula M, Heiskanen K, Karvinen J, Sistonen L, Eriksson J. Erythroid differentiation sensitizes K562 leukemia cells to TRAIL-induced apoptosis by downregulation of c-FLIP. Mol Cell Biol. 2003;23:1278-91 pubmed
- Kastaniotis A, Autio K, Sormunen R, Hiltunen J. Htd2p/Yhr067p is a yeast 3-hydroxyacyl-ACP dehydratase essential for mitochondrial function and morphology. Mol Microbiol. 2004;53:1407-21 pubmed..The mitochondrial phenotypes of the null and overexpression mutants suggest a crucial role of YHR067w in maintenance of mitochondrial respiratory competence and morphology in yeast. ..
- Koivuranta K, Hakkola E, Hiltunen J. Isolation and characterization of cDNA for human 120 kDa mitochondrial 2,4-dienoyl-coenzyme A reductase. Biochem J. 1994;304 ( Pt 3):787-92 pubmed..The results show that the rat and human reductases are similar in many characteristics and that the reductase is expressed in human tissues capable of beta-oxidation of fatty acids. ..
- Krohn K, Ovod V, Vilja P, Heino M, Scott H, Kyriakou D, et al. Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. Biochem Biophys Res Commun. 1997;238:806-10 pubmed..Mitochondrial localization is also predicted by computer analysis of the polypeptide sequence. As deafness is known to be caused in some instances by defects in mitochondrial function, C210RF2 is a plausible candidate gene for DFNB8/10. ..
- Andersson M, Mikkola R, Kroppenstedt R, Rainey F, Peltola J, Helin J, et al. The mitochondrial toxin produced by Streptomyces griseus strains isolated from an indoor environment is valinomycin. Appl Environ Microbiol. 1998;64:4767-73 pubmed..To our knowledge, this is the first report of the presence of ionophoric toxin producers in an indoor environment and the first report of valinomycin-producing strains identified as S. griseus...
- Hotti A, Jarvinen K, Siivola P, Hölttä E. Caspases and mitochondria in c-Myc-induced apoptosis: identification of ATM as a new target of caspases. Oncogene. 2000;19:2354-62 pubmed..Additionally, it was found that p53 becomes upregulated, together with its transcriptional targets MDM2 and p21, upon c-Myc induction, but this occurs also at a later time than the activation of caspase-3. ..
- Shah Z, Hakkaart G, Arku B, de Jong L, van der Spek H, Grivell L, et al. The human homologue of the yeast mitochondrial AAA metalloprotease Yme1p complements a yeast yme1 disruptant. FEBS Lett. 2000;478:267-70 pubmed..We propose that YME1L plays a phylogenetically conserved role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. ..
- Shah Z, Toompuu M, Hakkinen T, Rovio A, van Ravenswaay C, De Leenheer E, et al. Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families. Hum Mutat. 2001;17:433-4 pubmed
- Pakarinen P, Kimura S, El Gehani F, Pelliniemi L, Huhtaniemi I. Pituitary hormones are not required for sexual differentiation of male mice: phenotype of the T/ebp/Nkx2.1 null mutant mice. Endocrinology. 2002;143:4477-82 pubmed..The endogenous testosterone level in the null mutant testes is 5-10% of the control level, which suggests that there is a considerable safety margin in the amount of testosterone that is needed for the male fetal masculinization. ..
- Anttila K, Mänttäri S. Ultrastructural differences and histochemical characteristics in swimming muscles between wild and reared Atlantic salmon. Acta Physiol (Oxf). 2009;196:249-57 pubmed publisher..In the present study, some aspects of contractile machinery in swimming muscles of wild and reared salmon are compared...
- Johans M, Milanesi E, Franck M, Johans C, Liobikas J, Panagiotaki M, et al. Modification of permeability transition pore arginine(s) by phenylglyoxal derivatives in isolated mitochondria and mammalian cells. Structure-function relationship of arginine ligands. J Biol Chem. 2005;280:12130-6 pubmed..These results are consistent with a model where the target arginine plays a role as a voltage sensor...
- Tselykh T, Roos C, Heino T. The mitochondrial ribosome-specific MrpL55 protein is essential in Drosophila and dynamically required during development. Exp Cell Res. 2005;307:354-66 pubmed..Therefore, our results showed that the MrpL55 protein acts dynamically in the cell during development. We propose that MrpL55 is involved in Drosophila mitochondrial biogenesis and G2/M phase cell cycle progression. ..
- Haapalainen A, Meriläinen G, Pirilä P, Kondo N, Fukao T, Wierenga R. Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. Biochemistry. 2007;46:4305-21 pubmed..The structural analysis of the active site of T2 indicates that the Phe325-Pro326 dipeptide near the catalytic cavity is responsible for the exclusive 2-methyl-branched substrate specificity. ..
- Pätsi J, Kervinen M, Finel M, Hassinen I. Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme. Biochem J. 2008;409:129-37 pubmed..How these changes in the enzyme's catalytic properties contribute to LHON pathogenesis is discussed. ..
- Saaranen M, Suistomaa U, Vanha Perttula T. Semen selenium content and sperm mitochondrial volume in human and some animal species. Hum Reprod. 1989;4:304-8 pubmed..The amount of structural sperm Se as well as seminal plasma Se and GSH-Px activity appears to be highly variable in different species. ..
- Goldsteins G, Keksa Goldsteine V, Ahtoniemi T, Jaronen M, Arens E, Akerman K, et al. Deleterious role of superoxide dismutase in the mitochondrial intermembrane space. J Biol Chem. 2008;283:8446-52 pubmed publisher..The mitochondrial dysfunction and cell damage paradoxically induced by SOD1-mediated ROS production may be implicated in chronic degenerative diseases. ..
- Lyly A, Marjavaara S, Kyttälä A, Uusi Rauva K, Luiro K, Kopra O, et al. Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism. Hum Mol Genet. 2008;17:1406-17 pubmed publisher..These data indicate neuron-specific changes for F(1)-complex in the Ppt1-deficient cells and give clues for a possible link between lipid metabolism and neurodegeneration in INCL. ..
- Zanotto E, Lehtonen V, Jacobs H. Modulation of Mrps12/Sarsm promoter activity in response to mitochondrial stress. Biochim Biophys Acta. 2008;1783:2352-62 pubmed publisher..Promoter stimulation was correlated with mitochondrial ROS production, which may be a crucial component in its signalling. ..
- Chen Z, Kastaniotis A, Miinalainen I, Rajaram V, Wierenga R, Hiltunen J. 17beta-hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS. FASEB J. 2009;23:3682-91 pubmed publisher..Notably, 17beta-HSD8 was previously classified as a steroid-metabolizing enzyme, but our data suggest that 17beta-HSD8 is primarily involved in mitochondrial FAS. ..
- Jääskeläinen E, Teplova V, Andersson M, Andersson L, Tammela P, Andersson M, et al. In vitro assay for human toxicity of cereulide, the emetic mitochondrial toxin produced by food poisoning Bacillus cereus. Toxicol In Vitro. 2003;17:737-44 pubmed..Spermatozoa in commercially available extended fresh boar and cryopreserved bull semen were compared, boar sperms were 100 times more sensitive to cereulide than bull sperms. ..
- Torkko J, Koivuranta K, Kastaniotis A, Airenne T, Glumoff T, Ilves M, et al. Candida tropicalis expresses two mitochondrial 2-enoyl thioester reductases that are able to form both homodimers and heterodimers. J Biol Chem. 2003;278:41213-20 pubmed..Resolving of crystal structures obtained via Etr2p and Etr1p co-crystallization indicated that all possible dimer variants occur in the same asymmetric unit, suggesting that similar dimer formation also takes place in vivo...
- Jakobson M, Lintulahti A, Arumae U. mRNA for N-Bak, a neuron-specific BH3-only splice isoform of Bak, escapes nonsense-mediated decay and is translationally repressed in the neurons. Cell Death Dis. 2012;3:e269 pubmed publisher..Our data suggest strong translational arrest of N-Bak mRNA in the neurons. We show that this arrest is partially mediated by 5'-untranslated region of Bak mRNA and it is not released during mitochondrial apoptosis. ..
- Torkko J, Koivuranta K, Miinalainen I, Yagi A, Schmitz W, Kastaniotis A, et al. Candida tropicalis Etr1p and Saccharomyces cerevisiae Ybr026p (Mrf1'p), 2-enoyl thioester reductases essential for mitochondrial respiratory competence. Mol Cell Biol. 2001;21:6243-53 pubmed..We conclude that Etr1p and Ybr026p are novel 2-enoyl thioester reductases required for respiration and the maintenance of the mitochondrial compartment, putatively acting in mitochondrial synthesis of fatty acids. ..
- Hyvärinen H, Palviainen A, Strandberg U, Holopainen I. Aquatic environment and differentiation of vibrissae: comparison of sinus hair systems of ringed seal, otter and pole cat. Brain Behav Evol. 2009;74:268-79 pubmed publisher..As the vibrissae of aquatic mammals have analogous functions to the lateral line organ of fishes, we suggest using the term 'vibrissal sense' for the vibrissa system of aquatic mammals. ..