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Review Article

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

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Pages 415-427 | Received 30 Jul 2017, Accepted 17 Aug 2017, Published online: 19 Sep 2017
 

ABSTRACT

Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s. Recent developments from transmission electron microscopy (TEM; cryo-electron microscopy, electron tomography) have yielded higher resolution and fresh insights into the structure and function of these complex organelles. Microscopy in ciliated organisms, disease models, and in patients with ciliopathy diseases has dramatically expanded our understanding of the ubiquity, multisystem involvement, and importance of cilia in normal human development. Here, we review the importance of motile cilia ultrastructural studies in understanding the basis of diseases other than primary ciliary dyskinesia.

Acknowledgments

The views expressed in this publication are those of the authors and not necessarily those of the NHS, the National Institute of Health Research or the Department of Health. We are grateful to Dr. Mellisa Dixon for assistance in figure preparation.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Funding

The authors acknowledge support from the BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD network (COST Action 1407). Work by A.S. is independent research funded by a postdoctoral research fellowship from the National Institute of Health Research and Health Education England. H.M.M. is supported by the Great Ormond Street Hospital Children’s Charity and the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.

Additional information

Funding

The authors acknowledge support from the BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD network (COST Action 1407). Work by A.S. is independent research funded by a postdoctoral research fellowship from the National Institute of Health Research and Health Education England. H.M.M. is supported by the Great Ormond Street Hospital Children’s Charity and the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London.

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