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Early changes in gene expression in two models of Batten disease
Author(s) -
Elshatory Yasser,
Brooks Andrew I.,
Chattopadhyay Subrata,
Curran Timothy M.,
Gupta Praveena,
Ramalingam Vijay,
Hofmann Sandra L.,
Pearce David A.
Publication year - 2003
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(03)00162-5
Subject(s) - batten disease , neuronal ceroid lipofuscinosis , biology , knockout mouse , gene , mutation , phenotype , genetics , pathological , gene knockin , gene expression , pathology , medicine
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.