Human Molecular Genetics, 2001, Vol. 10, No. 18 1867-1871
© 2001 Oxford University Press
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes
1Gene Logic Inc., 708 Quince Orchard Road, Gaithersburg, MD 20878, USA, 2Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA, 3Department of Genome Sciences, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA, 4Human Genome Sciences, 9410 Key West Avenue, Rockville, MD 20850, USA and 5VeraGene LLC 9812 Falls Road, Suite 114-237, Potomac, MD 20854, USA
Loss-of-function mutations in the cystatin B (Cstb) gene cause a neurological disorder known as Unverricht–Lundborg disease (EPM1) in human patients. Mice that lack Cstb provide a mammalian model for EPM1 by displaying progressive ataxia and myoclonic seizures. We analyzed RNAs from brains of Cstb-deficient mice by using modified differential display, oligonucleotide microarray hybridization and quantitative reverse transcriptase polymerase chain reaction to examine the molecular consequences of the lack of Cstb. We identified seven genes that have consistently increased transcript levels in neurological tissues from the knockout mice. These genes are cathepsin S, C1q B-chain of complement (C1qB), ß2-microglobulin, glial fibrillary acidic protein (Gfap), apolipoprotein D, fibronectin 1 and metallothionein II, which are expected to be involved in increased proteolysis, apoptosis and glial activation. The molecular changes in Cstb-deficient mice are consistent with the pathology found in the mouse model and may provide clues towards the identification of therapeutic points of intervention for EPM1 patients.
+ To whom correspondence should be addressed at: VeraGene LLC 9812 Falls Road, Suite 114–237, Potomac, MD 20854, USA. Tel: +1 301 765 0841; Fax: +1 240 465 0788; Email: glennon@veragene.com
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