The SERCA1 enzyme is responsible for pumping calcium ions from the cytoplasm back into the sarcoplasmic reticulum. This action is vital for muscle relaxation. In healthy individuals, this process occurs efficiently, allowing muscles to contract and relax smoothly. However, in individuals with Brody Disease, mutations in the ATP2A1 gene result in a dysfunctional SERCA1 enzyme, impairing calcium reuptake and leading to the observed symptoms.
