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Zuoming Zhang, Jing An, Lei Zhang, Bo Jiao, Fan Lu, Zhibing Yu; Cacna1f gene related decrease in skeletal muscle contractility in a congenital stationary night blindness rat model. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3289.
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The CACNA1F gene encodes the L-type voltage-dependent calcium channel alpha 1F subunit (Cav1.4). Mutations in this gene result in incomplete congenital stationary night blindness (CSNB2) in humans. The Cav1.4 protein is expressed in skeletal muscles, but its corresponding function remains unclear. The current study investigated whether the Cacna1f mutation is responsible for skeletal muscle disorders in a Cacna1f mutation rat model (Cacna1f CSNB2 rat).
Electroretinography and behaviors tests were used to characterize the visual and muscle endurance function of Cacna1f CSNB2 rats. Contractility of the muscle strips was measured to evaluate the function of skeletal muscle ex-vive. Using immunohistochemical and western blot technologies to find the distribution and assess the expression of Cav1.4, and the synaptic associated protein Syntaxin (SYN) in affected rats. Real-time qRT-PCR was performed to confirm the expression of Cacna1f mRNA in skeletal muscle and retina in Cacna1f CSNB2 rats.
We found that the muscle endurance of Cacna1f CSNB2 rats is significantly lower than that of the wild-type rats. The fatigue resistance of the soleus muscle was also decreased in Cacna1f CSNB2 rats under high-frequency continuous tetanic stimulation. The expression levels of the short Cav1.4 and SYN proteins in the soleus of the Cacna1f CSNB2 rats were lower than those of wild-type rats. The long Cav1.4 protein was not detected in the skeletal muscle of Cacna1f CSNB2 rats. SYN was expressed in the soleus muscle, but not in the extensor digitorum longus. The Cacna1f mRNA level in the soleus of Cacna1f CSNB2 rats was decreased compared with wild-type rats.
These results suggest that the Cacna1f mutation decreases skeletal muscle contractility in CacnaifCSNB2 rats and that the Cacna1f gene affects SYN expression, which may have a regulatory function in the active zones of the skeletal muscle in Cacna1f-mutant rats.
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