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CD38‐NADase is a new major contributor to Duchenne muscular dystrophic phenotype

Antoine de Zélicourt, Abdallah Fayssoil, Mbarka Dakouane‐Giudicelli, Isley de Jesus, Ahmed Karoui, Faouzi Zarrouki, Florence Lefebvre, Arnaud Mansart, Jean‐Marie Launay, Jérôme Piquereau, Mariana G. Tarragó, Marcel Bonay, Anne Forand, Sophie Moog, France Piétri‐Rouxel, Élise Brisebard, Claudia C.S. Chini, Sonu Kashyap, Matthew J. Fogarty, Gary C. Sieck, Mathias Mericskay, Eduardo N. Chini, Ana M. Gómez, José‐Manuel Cancela, Sabine de la Porte

2022EMBO Molecular Medicine20 citationsDOIOpen Access PDF

Abstract

Abstract Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration. Two important deleterious features are a Ca 2+ dysregulation linked to Ca 2+ influxes associated with ryanodine receptor hyperactivation, and a muscular nicotinamide adenine dinucleotide (NAD + ) deficit. Here, we identified that deletion in mdx mice of CD38, a NAD + glycohydrolase‐producing modulators of Ca 2+ signaling, led to a fully restored heart function and structure, with skeletal muscle performance improvements, associated with a reduction in inflammation and senescence markers. Muscle NAD + levels were also fully restored, while the levels of the two main products of CD38, nicotinamide and ADP‐ribose, were reduced, in heart, diaphragm, and limb. In cardiomyocytes from mdx/CD38 −/− mice, the pathological spontaneous Ca 2+ activity was reduced, as well as in myotubes from DMD patients treated with isatuximab (SARCLISA ® ) a monoclonal anti‐CD38 antibody. Finally, treatment of mdx and utrophin–dystrophin‐deficient ( mdx/utr −/− ) mice with CD38 inhibitors resulted in improved skeletal muscle performances. Thus, we demonstrate that CD38 actively contributes to DMD physiopathology. We propose that a selective anti‐CD38 therapeutic intervention could be highly relevant to develop for DMD patients.

Topics & Concepts

Duchenne muscular dystrophyCD38mdx mouseRyanodine receptorNAD+ kinaseSkeletal muscleDystrophinMyogenesisMuscular dystrophyITGA7Internal medicineBiologyEndocrinologyChemistryMedicineCell biologyBiochemistryReceptorStem cellEnzymeCD34Calcium signaling and nucleotide metabolismSirtuins and Resveratrol in MedicineSignaling Pathways in Disease