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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Bandell, Michael Steen, Unni Lebo, Matthew Houge, Gunnar Riemer, Gunnar Wood, John N. Hoischen, Alexander Coste, Bertrand Giovanni, Monica A. Maas, Richard L. Steen, Vidar Martin Patapoutian, Ardem Stitziel, Nathan Mathur, Jayanti Sunyaev, Shamil R. Philippakis, Anthony Weiss, Scott T. Murray, Michael F. Cox, James Rehm, Heidi |
| Description | Author Affiliation: Coste B ( Molecular and Cellular Neuroscience Department, Dorris Neuroscience Center, The Scripps Research Institute, La Jolla, CA 92037, USA.); |
| Abstract | Mechanotransduction, the pathway by which mechanical forces are translated to biological signals, plays important but poorly characterized roles in physiology. PIEZOs are recently identified, widely expressed, mechanically activated ion channels that are hypothesized to play a role in mechanotransduction in mammals. Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments. Electrophysiological studies reveal that the two PIEZO2 mutations affect biophysical properties related to channel inactivation: both E2727del and I802F mutations cause the PIEZO2-dependent, mechanically activated currents to recover faster from inactivation, while E2727del also causes a slowing of inactivation. Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2. We further show that overexpression of mutated PIEZO2 cDNAs does not cause constitutive activity or toxicity to cells, indicating that the observed phenotype is likely due to a mechanotransduction defect. Our studies identify a type of channelopathy and link the dysfunction of mechanically activated ion channels to developmental malformations and joint contractures. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 12 |
| Volume Number | 110 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2013-03-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Arthrogryposis Genetic Diseases, Inborn Ion Channels Genetics Metabolism Mechanotransduction, Cellular Mutation Pathology Physiopathology Cell Line Infant Infant, Newborn Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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