Penta-SMA Platform for Spinal Muscular Atrophy

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Disease Background: Spinal Muscular Atrophy is a condition where the nerve cells in the brain and spinal cord atroph and therefore stop relaying neuronal signals. This leads to a loss in control of muscle movement. Two genes SMN1 and SMN2 have been identified to be causative of the disease when they carry a mutation. Severity of the disease is therefore attribute to the type of mutations and copies of the gene carried. In more severe cases the patient would have floppy arms and legs, difficulty swallowing, with twitching and breathing problems.

 

Details on the Model: Pentagrit zebrafish model carries an SMN1 mutation with a pathology of muscle weakness as observed in Spinal Muscular Atrophy condition. Due to lack of control over muscle movement, the fish exhibits poor swim patterns. Homozygous mutants with a stronger severity profile are predisposed to early and higher mortality rates displaying atrophy of muscle associated with voluntary functions such as swallowing and involuntary functions such as breathing. The pathophysiology is observed as progressive degenerative lower motor neurons in the spinal cord. In more severe cases degeneration of bulbar motor nuclei is also observed leading to a more severe pathophysiology.