Linked Life Data

12559844

Source:http://linkedlifedata.com/resource/pubmed/id/12559844

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pubmed-article:12559844pubmed:abstractTextJuvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is the most common progressive neurodegenerative disorder of childhood. The disease is inherited in an autosomal recessive manner and is the result of mutations in the CLN3 gene. One brain region severely affected in Batten disease is the cerebellum. Using a mouse model for Batten disease which shares pathological similarities to the disease in humans we have used oligonucleotide arrays to profile approximately 19000 mRNAs in the cerebellum. We have identified reproducible changes of twofold or more in the expression of 756 gene products in the cerebellum of 10-week-old Cln3-knockout mice as compared to wild-type controls. We have subsequently divided these genes with altered expression into 14 functional categories. We report a significant alteration in expression of genes associated with neurotransmission, neuronal cell structure and development, immune response and inflammation, and lipid metabolism. An apparent shift in metabolism toward gluconeogenesis is also evident in Cln3-knockout mice. Further experimentation will be necessary to understand the contribution of these changes in expression to a disease state. Detailed analysis of the functional consequences of altered expression of genes in the cerebellum of the Cln3-knockout mice may provide valuable clues in understanding the molecular basis of the pathological mechanisms underlying Batten disease.lld:pubmed
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pubmed-article:12559844pubmed:volume78lld:pubmed
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pubmed-article:12559844pubmed:pagination17-30lld:pubmed
pubmed-article:12559844pubmed:dateRevised2007-11-14lld:pubmed
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pubmed-article:12559844pubmed:year2003lld:pubmed
pubmed-article:12559844pubmed:articleTitleFunctional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease.lld:pubmed
pubmed-article:12559844pubmed:affiliationCenter for Functional Genomics, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA.lld:pubmed
pubmed-article:12559844pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:12559844pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
pubmed-article:12559844pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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