No abstract

Pathological changes in brainstem respiratory nuclei may underlie SUDEP. In this post-mortem study, Patodia et al. reveal alterations in pre-Bötzinger region neurons and modulatory medullary neuropeptidergic and monoaminergic systems, including galanin, somatostatin and serotonin. These changes may be sequelae of seizures and risk factors for SUDEP through defective respiratory homeostasis.

Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten disease. CLN3 encodes a multi-spanning and hydrophobic transmembrane protein whose function is unclear. As a consequence, the cell biology that underlies the pathology of the disease is not well understood. We have developed a genetic gain-of-function system in Drosophila to identify functional pathways and interactions for CLN3. We have identified previously unknown interactions between CLN3 and the Notch and Jun N-terminal kinase signalling pathways and have uncovered a potential role for the RNA splicing and localization machinery in regulating CLN3 function.