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Table 4 Mitochondrial evaluations of LGMDs in literature: listing of mitochondrial assessments and status of these readouts in current LGMD literature

From: The ties that bind: functional clusters in limb-girdle muscular dystrophy

Functional measurement: Reported analyses in LGMD literature:
Activation of intrinsic apoptotic pathways • Variability in LGMD R5 (LGMD2C) patient severity based upon BCL2 expression levels in skeletal muscle [163]
• No activation in aged LGMD R6 (LGMD2F) cardiomyocytes [165]
Mitochondrial ultrastructure • Mitochondrial swelling in LGMD R6 (LGMD2F) cardiomyocytes [165]
• Mitochondrial swelling and disorganized structure in LGMD R1 (LGMD2A) patient skeletal muscle [166]
• Mitochondrial swelling in LGMD R6 (LGMD2F) [147, 167]
• Reduced mitochondrial cristae density in LGMD R3 (LGMD2D) [168]
Oxygen consumption • Reduced in LGMD R3 (LGMD2D) patient and mouse skeletal muscle [168]
• Reduced in PYROXD1 knockdown myoblasts [53]
Mitochondrial membrane potential/permeability transition pore (mPTP) status • Decreased potential and open mPTP in LGMD R6 (LGMD2F) [165]
Electron transport chain (ETC) expression • Altered CI and CIV expression in LGMD R2 (LGMD2B) patient muscle [169]
• Decreased ETC expression in LGMD R3 (LGMD2D) mouse diaphragm muscle [168]
• Decreased CV expression in LGMD R6 (LGMD2F) mouse skeletal muscle and heart [170]
mtDNA copy numbers • Reduced in LGMD R3 (LGMD2D) patient and mouse skeletal muscle [168]
Mitochondrial biogenesis • Defective mitochondrial biogenesis in LGMD R3 (LGMD2D) patient and mouse skeletal muscle [168]
Mitochondrial Ca2+uptake • Ca2+ overload in LGMD R6 (LGMD2F) cardiomyocytes [165]