Toggle Main Menu Toggle Search

Open Access padlockePrints

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

Lookup NU author(s): Dr Amy VincentORCiD, Dr Yi Ng, Dr Kathryn White, Tracey DaveyORCiD, Gavin Falkous, Catherine Feeney, Dr Andrew Schaefer, Professor Bobby McFarlandORCiD, Professor Grainne Gorman, Professor Robert Taylor, Emeritus Professor Doug Turnbull



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M

Publication type: Article

Publication status: Published

Journal: Scientific Reports

Year: 2016

Volume: 6

Online publication date: 10/08/2016

Acceptance date: 07/07/2016

Date deposited: 18/10/2016

ISSN (electronic): 2045-2322

Publisher: Nature Publishing Group


DOI: 10.1038/srep30610


Altmetrics provided by Altmetric


Funder referenceFunder name
Engineering and Physical Sciences Research Council
Economic and Social Research Council
UK NIHR Biomedical Research Centre
BB/M012093/1Biotechnology and Biological Sciences Research Council
G906919Wellcome Trust Centre
G0700718Medical Research Council
MR/K000608/1MRC studentship as part of the MRC Centre
MR/K501074/1MRC studentship as part of the MRC Centre