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Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis

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Journal of Inherited Metabolic Disease

Summary

The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases characterized by massive accumulation of autofluorescent storage bodies in neurons and other cells. A late-onset form of NCL occurs in Tibetan terrier dogs. Gel electrophoretic analyses of isolated storage body proteins from brains of affected dogs indicated that a protein of approximately 50 kDa was consistently prominent and a 16 kDa component was present in some brain storage body preparations. Mass spectral analysis identified the 50 kDa protein as glial fibrillary acidic protein (GFAP), isoform 2. GFAP identification was supported by immunoblot and immunohistochemical analyses. Histone H4 was the major protein in the 16 kDa component. Specific accumulation of GFAP and histone H4 in storage bodies has not been previously reported for any of the NCLs. Tibetan terrier NCL may be the canine correlate of one of the human adult-onset NCLs for which the genetic bases and storage body compositions have not yet been determined.

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Authors and Affiliations

  1. Mason Eye Institute, University of Missouri School of Medicine, One Hospital Dr., Columbia, MO, 65212, USA

    M. L. Katz & D. N. Sanders

  2. Charles W Gehrke Proteomics Center and Biochemistry Department, University of Missouri, Columbia, Missouri, USA

    B. P. Mooney

  3. Department of Veterinary Pathobiology, University of Missouri, Columbia, Missouri, USA

    M. L. Katz & Gary S. Johnson

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  1. M. L. Katz
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  2. D. N. Sanders
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  3. B. P. Mooney
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  4. Gary S. Johnson
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Correspondence to M. L. Katz.

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Communicating editor: Joe Clarke

Competing interests: None declared

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Katz, M.L., Sanders, D.N., Mooney, B.P. et al. Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis. J Inherit Metab Dis 30, 952–963 (2007). https://doi.org/10.1007/s10545-007-0683-y

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