Penta-CLN3 Platform for Batten Disease


Disease Background: Batten disease is a neuronal disease due to mutations in the CLN3 genes which onsets early and therefore affects adolescents leading to vision impairment, intellectual challenge, motor disability with seizures and speech disturbance. In some cases, conditions such as arrhythmia and hallucinations are also associated leading to early mortality.


Details on the Model: Pentagrit zebrafish model is a CLN3 mutant with pathophysiology equivalence as in Batten condition. The model exhibits vision loss followed by muscle rigidity with compromised motor movements. ECG measurements indicate heart rhythm abnormalities with associated cognitive impaired such as memory and seizure behavior. Valporic acid approved by FDA as adjunctive theraphy rescues convulsant and seizure in zebrafish model of Batten disease.