Mitochondrial Replacement Techniques — Implications for the Clinical Community

An Institute of Medicine committee concluded that it's ethical to pursue clinical studies of mitochondrial replacement techniques, under certain conditions, but that critical safety and efficacy questions remain before regulatory approval or clinical use can occur. Mitochondrial DNA (mtDNA) diseases may be the poster child for highly targeted, “personalized” medicine. These heterogeneous disorders, although rare individually, have well-defined genetic causes — more than 400 known pathogenic mutations or deletions in the 16,569-base-pair mitochondrial chromosome that contains only 37 genes. Affected persons may present at any age with some combination of severe, often progressive, and sometimes fatal neurologic, musculoskeletal, cardiac, gastrointestinal, renal, ophthalmologic, and audiologic involvement. No cures or therapies have been approved by the Food and Drug Administration (FDA) for any mtDNA disease, although symptom-based clinical management can be beneficial. Despite their precisely defined causes, it’s . . .