Assess the mtDNA Mutation Load in Mesoangioblasts of mtDNA Mutation Carriers

What this Trial Is About

Mitochondrial diseases caused by defects in oxidative phosphorylation due to heteroplasmic mitochondrial DNA (mtDNA) mutations are rare but serious disorders affecting energy-demanding tissues like brain and muscle. Myopathy commonly occurs in over half of mtDNA mutation carriers, impacting their quality of life. Currently, no treatments are available, but exercise-induced muscle regeneration has shown potential to improve muscle function by reducing mutation load. This study aims to assess the mtDNA mutation load in mesoangioblasts, a type of muscle precursor cell, from various mtDNA mutation carriers to identify those suitable for stem-cell therapy development. This observational study involves collecting a skeletal muscle biopsy and blood sample from each participant to analyze the mtDNA mutation load in mesoangioblasts. The study also evaluates the proliferation, muscle differentiation, and oxidative phosphorylation capacity of these cells, along with systemic inflammation markers and mtDNA mutation levels in satellite cells. The study focuses on adult carriers of heteroplasmic mtDNA point mutations or large-scale deletions. Participants will provide a muscle biopsy and blood sample, which are analyzed to measure mtDNA mutation load, mitochondrial function, and inflammation markers. Researchers will monitor systemic inflammation and muscle cell characteristics to understand the feasibility of using autologous mesoangioblasts for therapy. The primary outcome is the mtDNA mutation load in mesoangioblasts, assessed during a single day of testing. The study expects to enroll 30 adults and will continue until July 2026.

mtDNA Mutation Load Analysis in Mesoangioblasts