Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
The CACNA1F gene encodes a member of the alpha-1F subunit family in the voltage-dependent calcium channel (Cav1.4) complex. Mutations in this gene result in incomplete congenital stationary night blindness (iCSNB2) in humans. And Cav1.4 mutation could affect the functions of the skeletal muscle. This study investigated the role of Cacna1f mutations in alteration of the skeletal muscle functions in a Cacna1f mutation rat model (Cacna1f(CSNB2) rat). We found that the muscle endurance behaviors of Cacna1f(CSNB2) rats were significantly lower than those of the wild-type rats. The high-frequency fatigue resistance of the soleus muscle was decreased in Cacna1f(CSNB2) rats under continuous tetanic stimulation. The expression levels of the syntaxin (SYN) proteins in the soleus of the Cacna1f(CSNB2) rats were lower than those of wild-type rats. SYN was expressed in the soleus muscle, but not in the extensor digitorum longus. The Cav1.4 protein was not detected in the skeletal muscle of Cacna1f(CSNB2) rats. The Cacna1f mRNA level in the soleus of Cacna1f(CSNB2) rats was decreased compared with that in wild-type rats. This study demonstrated for the first time that the Cacna1f mutation reduces the function of slow-twitch skeletal muscle. And it also demonstrated that the Cacna1f gene affects synapse-associated protein expression, which may block the signal transmission in synaptic connectivity of the retina and skeletal muscle in Cacna1f-mutant rats.
Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.
Jing
J
An
Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.
Lei
L
Zhang
Department of Aerospace Physiology, Fourth Military Medical University, Xi'an, China.
Bo
B
Jiao
Department of Biochemistry and Molecular Biology, Fourth Military Medical University, Xi'an, China.
Fan
F
Lu
Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.
Feng
F
Xia
Department of Aerospace Physiology, Fourth Military Medical University, Xi'an, China.
Zhibin
Z
Yu
Department of Clinical Aerospace Medicine, Fourth Military Medical University, Xi'an, China.
Zuoming
Z
Zhang
D000818:Animals; D015220:Calcium Channels / Q000235:genetics*; D004195:Disease Models, Animal; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009119:Muscle Contraction; D018657:Muscle Fibers, Slow-Twitch / Q000502:physiology*; D018482:Muscle, Skeletal / Q000503:physiopathology; D009216:Myopia / Q000235:genetics* / Q000503:physiopathology; D009755:Night Blindness / Q000235:genetics* / Q000503:physiopathology; D010807:Physical Endurance; D017354:Point Mutation; D017207:Rats, Sprague-Dawley; D055647:Rats, Transgenic
C527361:Cacna1f protein, rat; D015220:Calcium Channels
Electrophysiology; Gene regulation; Retinal degeneration; Skeletal muscle; Synaptic connectivity