Publications by authors named "Ammar Al-Aghbari"
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a debilitating neuromuscular disease characterized by progressive muscular weakness and neuronal degeneration, affecting 1-2 individuals per 100,000 globally. While SBMA is relatively rare, recent studies have shown a significantly higher prevalence of the disease among the indigenous population of Western Canada compared to the general population. The disease is caused by a pathogenic expansion of polyglutamine residues in the androgen receptor protein, which acts as a key transcriptional regulator for numerous genes.
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- Aquaporins (AQPs), especially AQP4 and AQP1, are key players in water transport across cell membranes, particularly in skeletal muscle.
- Reduced levels of AQP4 have been linked to Duchenne muscular dystrophy (DMD) and other neuromuscular disorders, affecting water permeability in muscle fibers due to dystrophin-associated protein complex instability.
- Although AQP4 knockout mice maintain normal appearance and activity levels, they cannot match the physical performance of wild-type mice, suggesting that compensatory mechanisms like the upregulation of AQP1 may play a role in response to AQP4 loss.