Zarrouki, F., Goutal, S., Vacca, O., Garcia, L., Tournier, N., Goyenvalle, A., & Vaillend, C. (2022). Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx Mouse
International journal of molecular sciences, 23(20), 12617. https://doi.org/10.3390/ijms232012617
The dystrophin-deficient mdx mouse is a widely used animal model for studying Duchenne muscular dystrophy (DMD), a genetic disorder characterized by progressive muscle weakness. While DMD is primarily considered a muscular disease, emerging evidence suggests that it also disrupts some brain functions. One crucial aspect of brain function is the communication between neurons, which is regulated by specific proteins called receptors.
A research paper titled “Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx Mouse” aimed to investigate how the absence of dystrophin, a protein missing in individuals with DMD, affects a specific type of receptor called GABAA receptors in the mdx mouse brain. GABAA receptors play a vital role in regulating inhibitory signalling in the brain, influencing various processes such as learning, memory, and anxiety.
In this study, the researchers examined the expression levels and distribution patterns of different subunits of GABAA receptors in the mdx mouse, comparing several brain regions and spinal cord. They specifically focused on two types of subunits: synaptic subunits, which are responsible for transmitting signals between neurons at synapses, and extrasynaptic subunits, which modulate overall brain activity and play a role in maintaining the brain’s excitatory-inhibitory balance.
The findings of the study revealed significant alterations in the expression of GABAA receptor subunits in the mdx mouse brain compared to healthy control mice, which may differ depending on the observed region of the nervous system. Specifically, the researchers observed changes in the levels and distribution of both synaptic and extrasynaptic subunits, indicating a disruption in the normal functioning of GABAA receptors. These abnormalities in GABAA receptor expression suggest that the absence of dystrophin in the mdx mouse model may contribute to alterations in inhibitory signalling in the brain, potentially affecting neuronal function and behaviour.
In conclusion, the research presented in this paper demonstrates abnormal expression patterns of synaptic and extrasynaptic GABAA receptor subunits in the dystrophin-deficient mdx mouse brain. These findings contribute to our understanding of the neurological aspects of DMD and highlight the complex involvement of GABAA receptors in the brain dysfunction associated with the disease.