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MITOBIOPATH

DISCOVERING NEW DISEASE PATHWAYS AFFECTING mtDNA METABOLISM

Total Cost €

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EC-Contrib. €

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 MITOBIOPATH project word cloud

Explore the words cloud of the MITOBIOPATH project. It provides you a very rough idea of what is the project "MITOBIOPATH" about.

proteins    proteasome    proteomic    multisystem    hallmarked    muscle    found    paediatric    developmental    expressing    immortalized    crisp    mutation    sequencing    syndrome    link    mitobiopath    severe    maintenance    animal    parkin    lack    cas9    box    functional    discovery    unknown    patients    encephalomyopathy    approximately    chain    60    respiratory    liver    expression    protein    knock    vivo    copy    mitochondrial    six    cellular    repeat    fibroblasts    molecular    cohort    neurodegenerative    multiple    biochemical    28    definition    model    mutations    leucine    defect    implementing    models    children    mouse    genes    combined    mutant    thrive    fbxl4    hypotonia    mrc    lines    delay    performed    dna    zebrafish    defects    latter    revealed    integrity    disease    presenting    discovering    genetic    biogenetic    pathogenic    mtdna    wes    characterization    mechanism    exome    disorders    gene    metabolism    onset    cell    unbiased    poorly    function    screening   

Project "MITOBIOPATH" data sheet

The following table provides information about the project.

Coordinator
THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE 

Organization address
address: TRINITY LANE THE OLD SCHOOLS
city: CAMBRIDGE
postcode: CB2 1TN
website: www.cam.ac.uk

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website http://www.mrc-mbu.cam.ac.uk/people/caterina-garone
 Total cost 195˙454 €
 EC max contribution 195˙454 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2015
 Funding Scheme MSCA-IF-EF-RI
 Starting year 2016
 Duration (year-month-day) from 2016-05-01   to  2018-04-30

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE UK (CAMBRIDGE) coordinator 114˙015.00
2    MEDICAL RESEARCH COUNCIL UK (SWINDON) participant 81˙439.00

Map

 Project objective

Defects of mitochondrial DNA (mtDNA) metabolism (maintenance, integrity and expression) are the most common cause of multiple mitochondrial respiratory chain (MRC) defects in children. Several new disease genes have been identified in these complex pathways but the functional link between mutant protein and mtDNA metabolism is unknown or poorly understood. Example of the latter is FBXL4 (F-box and leucine-rich repeat protein 4) gene, mutations of which have been recently found in 28 patients with a multisystem complex syndrome, hallmarked by combined MRC defect and reduction of mtDNA copy number in muscle and fibroblasts. Approximately 60% of patients still lack genetic definition of their disease. Objective of MITOBIOPATH proposal is the discovery and characterization of novel mitochondrial biogenetic and maintenance pathways by implementing three specific aims. 1) Gene discovering by whole exome sequencing (WES): unbiased WES screening will be applied to a large cohort of paediatric patients presenting early onset hypotonia, developmental delay, failure to thrive, severe encephalomyopathy and/or liver failure associated with combined MRC defects. 2) Pathogenic pathways revealed by new gene defects: functional studies using cellular and animal models (knock-out zebrafish or mouse models) will be performed to establish the pathogenic mechanism of the mutation(s) and the function of unknown disease-associated protein(s); 3) FBXL4 function in cellular and in vivo models: immortalized cell lines expressing six different FBXL4 mutations will be generated by using CRISP/Cas9 technology and characterized with a combined molecular, biochemical and proteomic approaches. In addition, proteins in the Parkin-proteasome complex were recently identified as potential partners of FBXl4, and they will be further analyzed. Knock-out mouse model of Fbxl4 will be also investigated. Overall results will have impact on both mitochondrial disorders and other neurodegenerative disease.

 Publications

year authors and title journal last update
List of publications.
2017 Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
published pages: 4257-4266, ISSN: 0964-6906, DOI: 10.1093/hmg/ddx314
Human Molecular Genetics 26/21 2019-06-13
2018 Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
Retrospective natural history of thymidine kinase 2 deficiency
published pages: jmedgenet-2017-1, ISSN: 0022-2593, DOI: 10.1136/jmedgenet-2017-105012
Journal of Medical Genetics 2019-06-13
2017 Peter J Kullar, Aurora Gomez-Duran, Payam A Gammage, Caterina Garone, Michal Minczuk, Zoe Golder, Janet Wilson, Julio Montoya, Sanna Häkli, Mikko Kärppä, Rita Horvath, Kari Majamaa, Patrick F Chinnery
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
published pages: 55-62, ISSN: 0006-8950, DOI: 10.1093/brain/awx295
Brain 141/1 2019-06-13
2017 René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P. Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A. Mayr, Robert W. Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
published pages: 525-538, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2017.08.015
The American Journal of Human Genetics 101/4 2019-06-13

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