Journal Article

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

Kimberly Lieuallen, Len A. Pennacchio, Morgan Park, Richard M. Myers and Gregory G. Lennon

in Human Molecular Genetics

Volume 10, issue 18, pages 1867-1871
Published in print September 2001 | ISSN: 0964-6906
Published online September 2001 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/10.18.1867
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

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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), β2-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.

Journal Article.  4014 words.  Illustrated.

Subjects: Genetics and Genomics

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