Journal
SCIENTIFIC REPORTS
Volume 6, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/srep30610
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Funding
- Biotechnology and Biological Sciences Research Council [BB/M012093/1]
- Engineering and Physical Sciences Research Council
- Economic and Social Research Council
- Medical Research Council [G0700718]
- Wellcome Trust Centre [G906919]
- UK NIHR Biomedical Research Centre
- MRC studentship as part of the MRC Centre [MR/K501074/1, MR/K000608/1]
- BBSRC [BB/M012093/1] Funding Source: UKRI
- MRC [G0800674, MR/K000608/1, MR/L016354/1, G0700718, MC_G0802536] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BB/M012093/1] Funding Source: researchfish
- Medical Research Council [G0800674, G0700718B, 1594323, MR/K000608/1, MR/L016354/1, G0700718, MC_G0802536] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0514-10077, NF-SI-0510-10187] Funding Source: researchfish
- NIHR Newcastle Biomedical Research Centre [BH111030] Funding Source: researchfish
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Mitochondrial functions are intrinsically linked to their morphology and membrane ultrastructure. Characterizing abnormal mitochondrial structural features may thus provide insight into the underlying pathogenesis of inherited and acquired mitochondrial diseases. Following a systematic literature review on ultrastructural defects in mitochondrial myopathy, we investigated skeletal muscle biopsies from seven subjects with genetically defined mtDNA mutations. Mitochondrial ultrastructure and morphology were characterized using two complimentary approaches: transmission electron microscopy (TEM) and serial block face scanning EM (SBF-SEM) with 3D reconstruction. Six ultrastructural abnormalities were identified including i) paracrystalline inclusions, ii) linearization of cristae and abnormal angular features, iii) concentric layering of cristae membranes, iv) matrix compartmentalization, v) nanotunelling, and vi) donut-shaped mitochondria. In light of recent molecular advances in mitochondrial biology, these findings reveal novel aspects of mitochondrial ultrastructure and morphology in human tissues with implications for understanding the mechanisms linking mitochondrial dysfunction to disease.
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