TY - JOUR
T1 - Motile cilia defects in diseases other than primary ciliary dyskinesia
T2 - The contemporary diagnostic and research role for transmission electron microscopy
AU - Mitchison, Hannah M.
AU - Shoemark, Amelia
N1 - 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.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Transmission electron microscopy
KW - Ciliopathy disease
KW - Non-respiratory
KW - Motile cilia
U2 - 10.1080/01913123.2017.1370050
DO - 10.1080/01913123.2017.1370050
M3 - Review article
C2 - 28925789
SN - 0191-3123
VL - 41
SP - 415
EP - 427
JO - Ultrastructural Pathology
JF - Ultrastructural Pathology
IS - 6
ER -