Scientists at MIA-Portugal identify a molecular mechanism associated with a rare neurodegenerative disease
Source: https://www.uc.pt/mia/mia-portugal-news/scientists-at-mia-portugal-identify-a-molecular-mechanism-associated-with-a-rare-neurodegenerative-disease/ Parent: https://www.uc.pt/mia/
Scientists at MIA-Portugal identify a molecular mechanism associated with a rare neurodegenerative disease
09 dezembro, 2025
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Scientists at MIA-Portugal identify a molecular mechanism associated with a rare neurodegenerative disease
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Neuza Domingues, assistant researcher, and Nuno Raimundo, principal investigator at Organelle Crosstalk in Ageing and Disease group lead the team that uncovered how Batten disease—a rare, fatal neurodegenerative disorder—triggers neuronal cell death. The researchers showed that loss or malfunction of the lysosomal protein CLN3 (battenin) causes lysosomal failure, leading to DNA damage and activation of harmful signalling pathways. They identified c-Abl and YAP1 as key drivers of this cell-death process. Blocking these pathways may offer new therapeutic avenues for a disease that primarily affects children and currently has no cure. The findings also shed light on mechanisms shared with ageing-related conditions such as dementia and vision loss. The study involved multiple international institutions and was published in EMBO Reports is available here.
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