Advanced

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

Lonka, L; Aalto, A; Kopra, O; Kuronen, M; Kokaia, Zaal LU ; Saarma, M and Lehesjoki, A E (2005) In BMC Neuroscience 6(27).
Abstract
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... (More)
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 upregulated 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. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
BMC Neuroscience
volume
6
issue
27
publisher
BioMed Central
external identifiers
  • wos:000228695600001
  • pmid:15826318
  • scopus:26444449018
ISSN
1471-2202
DOI
10.1186/1471-2202-6-27
language
English
LU publication?
yes
id
da50b3d4-eca2-4d78-aeb3-6d73bb65d049 (old id 244539)
date added to LUP
2007-09-28 16:06:53
date last changed
2017-01-01 06:40:40
@article{da50b3d4-eca2-4d78-aeb3-6d73bb65d049,
  abstract     = {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 upregulated 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.},
  author       = {Lonka, L and Aalto, A and Kopra, O and Kuronen, M and Kokaia, Zaal and Saarma, M and Lehesjoki, A E},
  issn         = {1471-2202},
  language     = {eng},
  number       = {27},
  publisher    = {BioMed Central},
  series       = {BMC Neuroscience},
  title        = {The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy},
  url          = {http://dx.doi.org/10.1186/1471-2202-6-27},
  volume       = {6},
  year         = {2005},
}