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] |