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High Frequency Hearing Loss and Hyperactivity in DUX4 Transgenic Mice
Abhijit Dandapat1, Benjamin J Perrin2, Christine Cabelka3
1Lillehei Heart Institute and Department of Pediatrics, University of Minnesota, Minneapolis, 55455, United States of America.
Plos One
|March 16, 2016
Summary
The iDUX4(2.7) mouse model reveals new non-muscle symptoms of facioscapulohumeral muscular dystrophy (FSHD), including hyperactivity and hearing loss, offering insights into DUX4 gene effects.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is linked to ectopic DUX4 expression, causing muscle and non-muscle issues.
- Mouse models are crucial for understanding DUX4's role in FSHD pathologies.
Purpose of the Study:
- To characterize novel non-muscle phenotypes in the iDUX4(2.7) mouse model.
- To investigate the impact of DUX4 expression on behavior and sensory function.
Main Methods:
- Utilized the X-linked doxycycline-inducible iDUX4(2.7) mouse model.
- Observed and documented behavioral changes (activity, torpor) and auditory function.
Main Results:
- iDUX4(2.7) females exhibited extreme hyperactivity and reduced resting time.
- Rare young males showed high activity interspersed with catatonic torpor.
- Female carriers displayed significant high-frequency hearing impairment above 8 kHz.
Conclusions:
- The iDUX4(2.7) mouse model exhibits distinct non-muscle phenotypes relevant to FSHD.
- This model is valuable for studying DUX4's non-muscle effects and potential therapeutic targets.
