Time: Monday, 12/June/2023: 1:45pm - 3:30pm Session Chair: Cristina Ugalde Session Chair: Giovanni Manfredi |
Location: Bologna Congress Center - Sala Europa Address: Piazza della Costituzione, 4/a, Bologna (BO), Italy |
ID: 176
Invited Speakers
Metabolic adaptations of respiratory chain organization and function
1Department of Biomedical Sciences, University of Padova, Italy; 2Veneto Institute of Molecular Medicine, Padova, Italy
1.Fernandez-Vizarra, E., Lopez-Calcerrada, S., Sierra-Magro, A., Perez-Perez, R., Formosa, L.E., Hock, D.H., Illescas, M., Penas, A., Brischigliaro, M., Ding, S., et al. (2022). Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. Cell Metab 34, 1792-1808. 10.1016/j.cmet.2022.09.005.
2.Fernandez-Vizarra, E., and Ugalde, C. (2022). Cooperative assembly of the mitochondrial respiratory chain. Trends Biochem Sci 47, 999-1008. 10.1016/j.tibs.2022.07.005.
3.Fernandez-Vizarra, E., Lopez-Calcerrada, S., Formosa, L.E., Perez-Perez, R., Ding, S., Fearnley, I.M., Arenas, J., Martin, M.A., Zeviani, M., Ryan, M.T., and Ugalde, C. (2021). SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFI(KO) cells. Biochim Biophys Acta Bioenerg 1862, 148414. 10.1016/j.bbabio.2021.148414.
4.Palenikova, P., Harbour, M.E., Prodi, F., Minczuk, M., Zeviani, M., Ghelli, A., and Fernandez-Vizarra, E. (2021). Duplexing complexome profiling with SILAC to study human respiratory chain assembly defects. Biochim Biophys Acta Bioenerg 1862, 148395. 10.1016/j.bbabio.2021.148395.
5.Protasoni, M., Perez-Perez, R., Lobo-Jarne, T., Harbour, M.E., Ding, S., Penas, A., Diaz, F., Moraes, C.T., Fearnley, I.M., Zeviani, M., Ugalde, C., and Fernandez-Vizarra, E. (2020). Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV. The EMBO journal 39, e102817. 10.15252/embj.2019102817.
ID: 403
Invited Speakers
Pluripotent stem cells and brain organoids for drug discovery of mitochondrial diseases
Heinrich Heine University, Düsseldorf, Germany
ID: 347
Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
High-throughput single cell analysis reveals progressive mitochondrial DNA mosaicism developing throughout life
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; 3Biosciences Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK
Burr, S. P., et al. (2023). "Cell lineage-specific mitochondrial resilience during mammalian organogenesis." Cell.
Alzaydi, M. M., et al. (2023). "Intracellular Chloride Channels Regulate Endothelial Metabolic Reprogramming in Pulmonary Arterial Hypertension." Am J Respir Cell Mol Biol 68(1): 103-115.
Kayhanian, S., et al. (2022). "Cell-Free Mitochondrial DNA in Acute Brain Injury." Neurotrauma Rep 3(1): 415-420.
ID: 238
Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.
1Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY; 2Weill Cornell Medicine, Department of Pharmacology, New York, NY; 3Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy; Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy; 4IRCCS, Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
ID: 520
Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
Succinylation as a novel pathogenic mechanism in a children's mitochondrial brain disease
1STEMM, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland; 2Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA; 3Buck Institute for Research on Aging, Novato, CA 94945, USA; 4Gladstone Institutes and University of California, San Francisco, CA 94158, USA; 5Department of Physics, University of Helsinki, Finland; 6HiLIFE Institute of Biotechnology, University of Helsinki, Finland; 7Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark; 8Unit of Cellular Biology and Mitochondrial Diseases, “Bambino Gesù” Children's Hospital, IRCCS, Rome, Italy; 9Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada; 10Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA
Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., ... & Verdin, E. (2020). SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease. Nature communications, 11(1), 5927.
ID: 226
Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
The levels and activation state of the pyruvate dehydrogenase complex modulate the SCAFI-dependent organization of the mitochondrial respiratory chain
1Instituto de Investigación Hospital 12 de Octubre, Madrid 28041, Spain; 2Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy; 3Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, Madrid, Spain
Fernández-Vizarra E, López-Calcerrada S, Sierra-Magro A, Pérez-Pérez R, Formosa LE, Hock DH, Illescas M, Peñas A, Brischigliaro M, Ding S, Fearnley IM, Tzoulis C, Pitceathly RDS, Arenas J, Martín MA, Stroud DA, Zeviani M, Ryan MT, Ugalde C. Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. Cell Metab. 2022 Nov 1;34(11):1792-1808.e6. doi: 10.1016/j.cmet.2022.09.005. PMID: 36198313.
ID: 301
Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
Oxphos deficiency indicates novel functions for the mitochondrial protein import subunit tim50
1Department of Biochemistry and Pharmacology and the Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia; 2Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, Queensland, 4001, Australia; 3Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia; 4Department of Paediatrics, University of Melbourne, Melbourne, Victoria, 3052, Australia; 5Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia
ID: 300
Modelling pathogenic mechanisms: OXPHOS, metabolic rewiring and tissue specificity
Microproteins in metabolic regulation
1Duke-NUS Medical School, Singapore; 2University of Melbourne, Australia; 3University of Utah, USA; 4University of Southampton, UK
Lena Ho, PhD (lead PI), is regarded as a pioneer in the field of microprotein research with over 30 primary research articles (5991 citations, H-index of 21) in top-tier journals. With more than 12 years of experience in microprotein discovery, functionalization and therapeutic development, Lena and her team have developed a framework of bioinformatic tools for mining ribo-seq data for disease-relevant small ORF peptides, as well as an extensive range of biochemical tools to validate their function and uncover their molecular mechanism. Lena is an EMBO Young Investigator and HHMI international scholar.
Recent publications :
1) Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
Lee CQE, Kerouanton B, Chothani S, Zhang S, Chen Y, Mantri CK, Hock DH, Lim R, Nadkarni R, Huynh VT, Lim D, Chew WL, Zhong FL, Stroud DA, Schafer S, Tergaonkar V, St John AL, Rackham OJL, Ho L. Nat Commun. 2021 Apr 9;12(1):2130. doi: 10.1038/s41467-021-22397-5.
2) Mitochondrial microproteins link metabolic cues to respiratory chain biogenesis.
Liang C, Zhang S, Robinson D, Ploeg MV, Wilson R, Nah J, Taylor D, Beh S, Lim R, Sun L, Muoio DM, Stroud DA, Ho L. Cell Rep. 2022 Aug 16;40(7):111204. doi: 10.1016/j.celrep.2022.111204.
3) Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly.
Zhang S, Reljić B, Liang C, Kerouanton B, Francisco JC, Peh JH, Mary C, Jagannathan NS, Olexiouk V, Tang C, Fidelito G, Nama S, Cheng RK, Wee CL, Wang LC, Duek Roggli P, Sampath P, Lane L, Petretto E, Sobota RM, Jesuthasan S, Tucker-Kellogg L, Reversade B, Menschaert G, Sun L, Stroud DA, Ho L.
4) Viral proteases activate the CARD8 inflammasome in the human cardiovascular system.
Nadkarni R, Chu WC, Lee CQE, Mohamud Y, Yap L, Toh GA, Beh S, Lim R, Fan YM, Zhang YL, Robinson K, Tryggvason K, Luo H, Zhong F, Ho L. J Exp Med. 2022 Oct 3;219(10):e20212117. doi: 10.1084/jem.20212117. Epub 2022 Sep 21.