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Background  The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by accumulation of autofluorescent material in many tissues, especially in neurons. Mutations in the  CLN8  gene, encoding an endoplasmic reticulum (ER) transmembrane protein of unknown function, underlie NCL phenotypes in humans and mice. The human phenotype is characterized by epilepsy, progressive psychomotor deterioration and visual loss, while motor neuron degeneration ( mnd ) mice with a  Cln8  mutation show progressive motor neuron dysfunction and retinal degeneration.    Results  We investigated spatial and temporal expression of  Cln8  messenger ribonucleic acid (mRNA) using  in situ  hybridization, reverse transcriptase polymerase chain reaction (RT-PCR) and northern blotting.  Cln8  is ubiquitously expressed at low levels in embryonic and adult tissues. In prenatal embryos  Cln8  is most prominently expressed in the developing gastrointestinal tract, dorsal root ganglia (DRG) and brain. In postnatal brain the highest expression is in the cortex and hippocampus. Expression of  Cln8  mRNA in the central nervous system (CNS) was also analyzed in the hippocampal electrical kindling model of epilepsy, in which  Cln8  expression was rapidly up-regulated in hippocampal pyramidal and granular neurons.    Conclusion  Expression of  Cln8  in the developing and mature brain suggests roles for Cln8 in maturation, differentiation and supporting the survival of different neuronal populations. The relevance of  Cln8  up-regulation in hippocampal neurons of kindled mice should be further explored.

bmc neuroscience

The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy.