Conference Agenda

Decoding the regulatory principles of mitochondrial DNA: packaging, expression, and impact on cellular metabolism

L. Stirling Churchman

Harvard Medical School, United States of America

Mechanisms of mitochondrial RNA biogenesis in health and disease

Hauke Hillen^1,2

¹Department of Cellular Biochemistry, University Medical Center Göttingen, Germany; ²Research Group Structure and Function of Molecular Machines, Max-Planck-Institute for Multidisciplinary Sciences Göttingen, Germany

Disruption of mitochondrial function induces cell lineage-specific compensatory transcriptional responses during early embryonic development

Stephen P. Burr^1,2, Florian Klimm^1,2,3, Angelos Glynos^1,2, Malwina Prater^1,2,4, Maria Falkenberg⁵, Michal Minczuk², James B. Stewart^6,7, Patrick F Chinnery^1,2

¹Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; ²Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; ³Novo Nordisk Research Centre Oxford, Innovation Building, University of Oxford, Old Road Campus, Oxford, UK; ⁴Functional Genomics Centre, Milner Therapeutics Institute, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK; ⁵Department of Medical Biochemistry and Cell Biology, University of Gothenburg, PO Box 440, Gothenburg 405 30, Sweden; ⁶Max Planck Institute for Biology of Ageing, Cologne, Germany; ⁷Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK

Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells

Caleb A. Lareau^1,2,3,4,5, Sonia M. Dubois⁵, Frank A. Buquicchio¹, Yu-Hsin Hsieh^6,7, Kopal Garg^4,5, Pauline Kautz^6,7,8, Lena Nitsch^6,7,9, Samantha D. Praktiknjo^6,7, Patrick Maschmeyer^6,7, Jeffrey M. Verboon^4,5, Jacob C. Gutierrez¹, Yajie Yin¹, Evgenij Fiskin⁴, Wendy Luo⁴, Eleni Mimitou^10,17, Christoph Muus^4,11, Rhea Malhotra⁴, Sumit Parikh¹², Mark D. Fleming¹³, Lena Oevermann¹⁴, Johannes Schulte¹⁴, Cornelia Eckert¹⁴, Anshul Kundaje^3,15, Peter Smibert^10,18, Ansuman T. Satpathy^1,2, Aviv Regev^4,16,19, Vijay Sankaran^4,5, Suneet Agarwal⁵, Leif S. Ludwig^4,5,6,7

¹Department of Pathology, Stanford University, Stanford, CA 94305, USA; ²Parker Institute of Cancer Immunotherapy, San Francisco, CA 94129, USA; ³Department of Genetics, Stanford University, Stanford, CA 94305, USA; ⁴Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; ⁵Division of Hematology / Oncology, Boston Children’s Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA; ⁶Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Charitéplatz 1, 10117 Berlin, Germany; ⁷Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), 10115 Berlin, Germany; ⁸Institute of Biotechnology, Technische Universität Berlin, Berlin, Germany; ⁹Department of Biology, Chemistry, Pharmacy, Freie Universität Berlin, Berlin, Germany; ¹⁰Technology Innovation Lab, New York Genome Center, New York, NY 10013, USA; ¹¹Paulson School of Engineering and Applied Sciences, Harvard University, Cambridge, MA 02134, USA; ¹²Center for Pediatric Neurosciences, Mitochondrial Medicine, Cleveland Clinic, Cleveland, OH 44195, USA; ¹³Department of Pathology, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA; ¹⁴Department of Pediatric Oncology, Charité-Universitätsmedizin Berlin, Campus Virchow Klinikum, 13353 Berlin, Germany; ¹⁵Department of Computer Science, Stanford University, Stanford, CA 94305, USA; ¹⁶Department of Biology and Koch Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; ¹⁷Current address: Immunai, New York, NY 10114, USA; ¹⁸Current address: 10x Genomics, San Francisco, CA 94111, USA; ¹⁹Current address: Genentech, San Francisco, CA 94080, USA

Quantifying mitochondrial proteome remodeling during macrophage polarization

Joan Blanco-Fernandez, Manfredo Quadroni, Alexis A. Jourdain

University of Lausanne, Switzerland

Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription

Janne Purhonen^1,2, Jukka Kallijarvi^1,2

¹Folkhalsan Research Center, Finland; ²Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki

Long-read NGS for detection of mitochondrial DNA large-scale deletions and complex rearrangements

Chiara Frascarelli¹, Nadia Zanetti¹, Alessia Nasca¹, Rossella Izzo¹, Costanza Lamperti¹, Eleonora Lamantea¹, Daniele Ghezzi^1,2, Andrea Legati¹

¹Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy); ²University of Milan (Milan, Italy)