What is it about?

Neuronal intranuclear inclusion disease (NIID) is an incurable neurodegenerative disease at present. We have developed a transgenic fly model which mimics the major pathological and clinical features of NIID. Using this model, combined with NIID patient samples, we have shown for the first time that the disease-causing protein, uN2CpolyG, directly induced mitochondrial damage.

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Why is it important?

Our findings indicate that mitochondrial dysfunction plays an important role in the pathogenesis of NIID. Reversing mitochondrial damage, such as treating by idebenone, can serve as a potential therapeutic strategy for treating this disease.

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This page is a summary of: CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model, Proceedings of the National Academy of Sciences, October 2022, Proceedings of the National Academy of Sciences, DOI: 10.1073/pnas.2208649119.
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