Mission-collaboration

Host laboratory: ImpedanCELL platform, Caen

Poster presentation at "New Directions in Biology and Disease of Skeletal Muscle" June 23-26, 2024, Florida USA

The project developed by the association Naevus 2000 France-Europe and MMG, and supported by the Institut MarMaRa, aims to better characterize the diversity of cellular signatures within congenital giant nevi (CGN). CGN is a rare, highly visible malformation of the skin that can occur alone or in association with other, often neurological, symptoms. For some of the children thus affected, it also predisposes them to develop several types of cancer, the most frequent and lethal of which is malignant melanoma.

Thanks to funding from the Institute, Heather Etchevers' team has begun a pilot spatial transcriptomics study to identify the different cellular profiles of UCS directly in the context of the skin of patients scheduled for reconstructive surgery. The support of the MarMaRa Institute has enabled our association to leverage cutting-edge technologies and then facilitate a popularized presentation of the results during November 2023 by Dr Etchevers for our members and those of other European UCS family associations.

Further information

• Partner association website

The aim of our project is to develop and study new cellular models of LAMA2-RD derived from patient stem cells (hiPSC). Thanks to this funding, the team has already derived hiPSCs from four patients carrying different mutations in the LAMA2 gene, and phenotypic analyses of the differentiated muscle cells are currently underway. These will enable us to identify the pathological mechanisms of LAMA2-RD in humans and new therapeutic targets.

For our small LAMA2 France association, our priority is to be able to provide practical support to researchers working directly on this muscular dystrophy. Project co-funding is an effective way for us to get involved, while enabling us to follow research projects in a concrete way, and thus improve the information we provide to patients and their families. It's a win-win partnership!

To find out more

• Association website
  

Heart failure affects between 1% and 2% of the world's population. As this number increases each year, heart failure is becoming a major public health problem. They are mainly caused by cardiomyopathies, diseases that affect the heart muscle, leading to a loss of function and contractility of heart cells. As a result, hearts become dysfunctional.

Chagas disease is a parasitic disease caused by the Trypanosoma cruzi parasite, endemic to South America and transmitted to humans by an insect vector, the reduva. It currently affects around 8 million people, and is divided into two phases: an acute phase, usually symptom-free; and a chronic phase, which in 30% of cases develops into cardiomyopathy. Chronic chagasic cardiomyopathies are dilated cardiomyopathies, characterized by a strong inflammatory reaction. This strong inflammatory reaction in the heart leads to dysfunctions in the cell's energy center: the mitochondria.

To gain a better understanding of the disease, we decided to recruit 6 nuclear, multi-case families in the endemic region of São Paulo, Brazil, in order to identify genetic variants present in sufferers that could amplify the disease. We identified 7 genes involved in two biological processes, inflammation and mitochondria. The genes are DHODH, UMPS, MAP4K4, LEPR, RPUDS3, SLC11A1 and MAML1. To understand the impact of these genes on the cell, we used the CRISPR/CAS9 technique to insert them into cardiac cells. In order to test the effect of these mutations on the cell's mitochondrial energy center, a key process for cardiac contraction.