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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.

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

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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