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Targeting mitochondrial defects and oxidative stress in Pompe Disease: from pathogenesis to therapy

Total Cost €


EC-Contrib. €






 MITOPOMPE project word cloud

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

respiratory    oxidative    calcium    stress    signaling    mingozzi    combined    boost    ko    lysosomal    extensive    heavily    treat    cell    mutations    gene    disorders    fighting    buffering    brain    interacting    neuron    mitochondrial    lsd    functionally    missing    little    active    point    regulated    acid    muscle    full    potentially    cellular    rescue    mouse    phosphorylation    lsds    pompe    mitochondria    dr    motor    therapy    mtgsh    avenues    dependent    defects    dysfunction    cardiomyopathy    mitocatalase    tissues    sequencing    therapeutic    nrf2    complemented    weakness    synapses    group    evident    mitoq    disease    reversal    phenotypes    expertise    muscular    therapies    central    model    caused    accordingly    enzyme    storage    gaa    nervous    function    apoptosis    neuromuscular    functional    pd    atp    transmission    synaptic    amounts    alpha    pathophysiology    depending    everyday    competent    organelle    pathology    aav    severity    treatment    transcriptomic    glucosidase    neurological    rna    antioxidants    tested    neuronal    pharmaceutical    interventions    perform    involvement   

Project "MITOPOMPE" data sheet

The following table provides information about the project.


Organization address
city: EVRY
postcode: 91002

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 France [FR]
 Total cost 173˙076 €
 EC max contribution 173˙076 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2017
 Funding Scheme MSCA-IF-EF-ST
 Starting year 2019
 Duration (year-month-day) from 2019-01-01   to  2020-12-31


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    ASSOCIATION GENETHON FR (EVRY) coordinator 173˙076.00


 Project objective

The central role of ATP production by oxidative-phosphorylation, together with calcium buffering and apoptosis, makes mitochondria an organelle interacting with many processes within the cell. Neuronal and muscular tissues require high amounts of ATP to perform their everyday function, therefore are heavily dependent on mitochondrial function. Neuromuscular synapses are of particular importance since synaptic transmission is a highly regulated process which requires active and functionally competent mitochondria. Accordingly, mitochondrial involvement is becoming increasingly evident in is Lysosomal Storage Disorders (LSDs) along with neurological pathology. Over the past several years Dr. Mingozzi’s group has built extensive expertise in Pompe Disease (PD), an LSD which is caused by mutations in the enzyme acid α-glucosidase (GAA). Muscle weakness, cardiomyopathy, respiratory failure, central nervous system and more specifically motor-neuron defects are observed depending on the severity of the disease. Little is known about the role of mitochondria in the pathophysiology of PD and interventions aimed at addressing mitochondrial defects in PD is currently missing. The aim of this proposal is to characterize the mitochondrial dysfunction in the Gaa KO mouse model of PD. This to assess potential rescue of such phenotypes by AAV-based GAA gene therapy complemented with therapeutic interventions targeted to treat and boost mitochondrial function by fighting against oxidative stress. Two mitochondrial treatment approaches; (i) pharmaceutical antioxidants, e.g. mitoQ or mtGSH and (ii) AAV based approaches; AAV-Nrf2 and AAV-mitoCatalase will be tested. Combined therapies with the AAV-GAA treatment will aim to reach full rescue of the muscle and brain pathology and functional reversal of mitochondrial defects. Transcriptomic changes will also be analyzed by RNA sequencing to investigate cellular signaling changes which will potentially point to novel therapeutic avenues.

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The information about "MITOPOMPE" are provided by the European Opendata Portal: CORDIS opendata.

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