Time: Monday, 12/June/2023: 9:00am - 10:45am Session Chair: Zofia Chrzanowska-Lightowers Session Chair: Massimo Zeviani |
Location: Bologna Congress Center - Sala Europa Address: Piazza della Costituzione, 4/a, Bologna (BO), Italy |
ID: 236
Invited Speakers
Initiation of mitochondrial DNA replication in mammalian cells.
Gothenburg University, Sweden
Maria Falkenberg defended her Ph.D. thesis (2000) at the University of Gothenburg, Sweden, after spending three years as a visiting student with Prof. I.R. Lehman, Stanford University School of Medicine. After postdoctoral work with Prof. Nils-Göran Larsson (2001-2002), she was appointed assistant professor at the Karolinska Institutet (2003). Since 2011, she is professor of medical biochemistry at the University of Gothenburg. The Falkenberg laboratory studies DNA replication in mammalian mitochondria, using in-vitro biochemistry, structural biology and and cell biology to study the underlying enzymatic processes. The laboratory also investigates the molecular consequences of disease-causing mutations affecting mitochondrial DNA replication and develops new, rational therapeutic approaches.
ID: 680
Invited Speakers
Regulation of mitochondrial gene expression in disease
University of Western Australia, Australia
ID: 423
mtDNA maintenance and expression
Mitochondrial translation termination at non-canonical stop codons
1Karolinska Institutet, Stockholm, Sweden; 2University of Pennsylvania, Pennsylvania, USA; 3Max-Planck-Institute for Biology of Ageing, Cologne, Germany
Krüger A, Remes C, Shiriaev DI, Liu Y, Spåhr H, Wibom R, Atanassov I, Nguyen MD, Cooperman BS, Rorbach J. Human mitochondria require mtRF1 for translation termination at non-canonical stop codons. Nat Commun 14, 30 (2023).
ID: 268
mtDNA maintenance and expression
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
1Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE-405 30 Gothenburg, Sweden; 2Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 3Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 4Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK; 5The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK; 6North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK; 7Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK; 8Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 9NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK; 10Nuffield Department of Women’s & Reproductive Health, The Women's Centre, University of Oxford, Oxford, UK; 11Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK; 12Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; 13Department of Internal Medicine, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 14Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, Brazil; 15Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27101, USA; 16Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; 17The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; 18The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; 19The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 20Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Israel; 21Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; 22Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden
Menger et al. (2022). Two type I topoisomerases maintain DNA topology in human mitochondria. Nucleic Acids Research; 50(19):11154-11174.
Tan et al. (2022). The human mitochondrial genome contains a second light strand promoter. Molecular Cell; 82(19): 3646-3660.
Misic et al. (2022). Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion. Nucleic Acids Research; 50(15): 8749-8766.
Menger et al. (2021). Controlling the topology of mammalian mitochondrial DNA. Open Biology; 11(9): 210168.
Jiang et al. (2021). The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication. Science Advances; 7(27): eabf8631.
ID: 244
mtDNA maintenance and expression
The role of replicative exonucleases in mitochondrial DNA replication and degradation
University of Miami Miller School of Medicine, United States of America
S27 of IFNα1 Contributes to Its Low Affinity for IFNAR2 and Weak Antiviral Activity
Nikunj Sharma, Anya J. O'Neal, Christian Gonzalez, Megen Wittling, Erisa Gjinaj, Lisa M. Parsons, Debasis Panda, Alexey Khalenkov, Dorothy Scott, Saurav Misra, and Ronald L. Rabin
Journal of Interferon & Cytokine Research 2019 39:5, 283-292
ID: 127
mtDNA maintenance and expression
Processing of mitochondrial RNA in health and disease: the role of FASTKD5.
1The Neuro & McGill University, Montreal, Quebec, Canada; 2Dell School of Medicine, University of Texas at Austin, Austin, TX, USA
1.Arguello T, Peralta S, Antonicka H, Gaidosh G, Diaz F, Tu YT, Garcia S, Shiekhattar R, Barrientos A, Moraes CT. (2021) ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly. Cell Rep. 2021 Dec 21;37(12):110139. doi: 10.1016/j.celrep.2021.110139.
2.Go CD, Knight JDR, Rajasekharan A, Rathod B, Hesketh GG, Abe KT, Youn JY, Samavarchi-Tehrani P, Zhang H, Zhu LY, Popiel E, Lambert JP, Coyaud É, Cheung SWT, Rajendran D, Wong CJ, Antonicka H, Pelletier L, Palazzo AF, Shoubridge EA, Raught B, Gingras AC. (2021) A proximity-dependent biotinylation map of a human cell. Nature. 2021 Jul;595(7865):120-124. doi: 10.1038/s41586-021-03592-2.
3.Antonicka H, Lin ZY, Janer A, Aaltonen MJ, Weraarpachai W, Gingras AC, Shoubridge EA. (2020) A High-Density Human Mitochondrial Proximity Interaction Network. Cell Metab. 2020 Sep 1;32(3):479-497.e9. doi: 10.1016/j.cmet.2020.07.017.
4.Maiti P, Antonicka H, Gingras AC, Shoubridge EA, Barrientos A. (2020) Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation. Nucleic Acids Res. 2020 Aug 20;48(14):7924-7943. doi: 10.1093/nar/gkaa592.
5.Antonicka H, Choquet K, Lin ZY, Gingras AC, Kleinman CL, Shoubridge EA. (2017) A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO Rep. 2017 Jan;18(1):28-38. doi: 10.15252/embr.201643391.
ID: 524
mtDNA maintenance and expression
Mechanisms of mtDNA maintenance and segregation in the female germline
1Karolinska Institutet, Stockholm, Sweden; 2MRC Mitochondrial Biology Unit, Cambridge, United Kingdom; 3Department of Clinical Neurosciences, University of Cambridge, United Kingdom
ID: 116
mtDNA maintenance and expression
The human Mitochondrial mRNA Structurome reveals Mechanisms of Gene Expression in Physiology and Pathology
1University of Miami, United States of America; 2Harvard Medical School, United States of America
1- Structural basis of LRPPRC-SLIRP-1 dependent translation by the
mitoribosome. Vivek Singh, J. Conor Moran, Yuzuru Itoh, Iliana C. Soto, Flavia Fontanesi, Mary Couvillion, Martijn A. Huynen4, Stirling Churchman, Antoni Barrientos*, Alexey Amunts*. Nat Struct Mol Bill. 2023 (in press)
2-Tissue-specific mitochondrial HIGD1C promotes oxygen sensitivity in carotid body chemoreceptors. Timón-Gómez A, Scharr AL, Wong NY, Ni E, Roy A, Liu M, Chau J, Lampert JL, Hireed H, Kim NS, Jan M, Gupta AR, Day RW, Gardner JM, Wilson RJA, Barrientos A, Chang AJ. Elife. 2022 Oct 18;11:e78915. doi: 10.7554/eLife.78915.
2- Coordination of metal center biogenesis in human cytochrome c oxidase.
Nývltová E, Dietz JV, Seravalli J, Khalimonchuk O, Barrientos A.
Nat Commun. 2022 Jun 24;13(1):3615. doi: 10.1038/s41467-022-31413-1.