title: Early changes in gene expression in two models of Batten disease.
abstract: Infantile and juvenile neuronal ceroid lipofuscinosis (NCLs) are progressive neurodegenerative disorders of childhood with distinct ages of clinical onset, but with a similar pathological outcome. Infantile and juvenile NCL are inherited in an autosomal recessive manner due to mutations in the CLN1 and CLN3 genes, respectively. Recently developed Cln1- and Cln3-knockout mouse models share similarities in pathology with the respective human disease. Using oligonucleotide arrays we identified reproducible changes in gene expression in the brains of both 10-week-old Cln1- and Cln3-knockout mice as compared to wild-type controls, and confirmed changes in levels of several of the cognate proteins by immunoblotting. Despite the similarities in pathology, the two mutations affect the expression of different, non-overlapping sets of genes. The possible significance of these changes and the pathological mechanisms underlying NCL diseases are discussed.
authors.affiliation: Center for Aging and Developmental Biology, University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642, USA.
authors.forename: Yasser
authors.initials: Y
authors.lastname: Elshatory
authors.forename: Andrew I
authors.initials: AI
authors.lastname: Brooks
authors.forename: Subrata
authors.initials: S
authors.lastname: Chattopadhyay
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Curran
authors.forename: Praveena
authors.initials: P
authors.lastname: Gupta
authors.forename: Vijay
authors.initials: V
authors.lastname: Ramalingam
authors.forename: Sandra L
authors.initials: SL
authors.lastname: Hofmann
authors.forename: David A
authors.initials: DA
authors.lastname: Pearce
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout; D018832:Molecular Chaperones; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D011506:Proteins / Q000235:genetics / Q000502:physiology*; D013869:Thiolester Hydrolases
chemical_list: C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D018832:Molecular Chaperones; D011506:Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human