Evidence
Biochim Biophys Acta Mol Basis Dis. 2023 May 18:166756. doi: 10.1016/j.bbadis.2023.166756. Online ahead of print.
ABSTRACT
• Neuronal Ceroido Lipofuscinoses (NCL) are inherited, neurodegenerative disorders associated with lysosomal storage. • Impaired autophagy plays a pathogenetic role in several NCL forms, including CLN3 disease, but study on human brains lacks. • In post-mortem brain samples of a CLN3 patient the LC3-I to LC3-II shift was consistent with activated autophagy. However, the autophagic process seemed to be ineffective due to the presence of lysosomal storage markers. • After fractionation with buffers of increasing detergent-denaturing strength, a peculiar solubility pattern of LC3-II was observed in CLN3 patient’s samples, suggesting a different lipid composition of the membranes where LC3-II is stacked.
PMID:37209872 | DOI:10.1016/j.bbadis.2023.166756
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