| Summary: | <p>Abstract</p> <p>Background</p> <p>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 <it>CLN8 </it>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 (<it>mnd</it>) mice with a <it>Cln8 </it>mutation show progressive motor neuron dysfunction and retinal degeneration.</p> <p>Results</p> <p>We investigated spatial and temporal expression of <it>Cln8 </it>messenger ribonucleic acid (mRNA) using <it>in situ </it>hybridization, reverse transcriptase polymerase chain reaction (RT-PCR) and northern blotting. <it>Cln8 </it>is ubiquitously expressed at low levels in embryonic and adult tissues. In prenatal embryos <it>Cln8 </it>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 <it>Cln8 </it>mRNA in the central nervous system (CNS) was also analyzed in the hippocampal electrical kindling model of epilepsy, in which <it>Cln8 </it>expression was rapidly up-regulated in hippocampal pyramidal and granular neurons.</p> <p>Conclusion</p> <p>Expression of <it>Cln8 </it>in the developing and mature brain suggests roles for Cln8 in maturation, differentiation and supporting the survival of different neuronal populations. The relevance of <it>Cln8 </it>up-regulation in hippocampal neurons of kindled mice should be further explored.</p>
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