Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis
Open Access
- 15 November 2007
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 30 (6), 952-963
- https://doi.org/10.1007/s10545-007-0683-y
Abstract
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.Keywords
This publication has 64 references indexed in Scilit:
- The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal TransporterAmerican Journal of Human Genetics, 2007
- Glial fibrillary acidic protein is a major target of glycoxidative and lipoxidative damage in Pick's diseaseJournal of Neurochemistry, 2006
- Cathepsin D Deficiency Is Associated with a Human Neurodegenerative DisorderAmerican Journal of Human Genetics, 2006
- Plectin Regulates the Organization of Glial Fibrillary Acidic Protein in Alexander DiseaseThe American Journal of Pathology, 2006
- An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAPBrain & Development, 2006
- Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander diseaseAnnals of Neurology, 2005
- A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosisBiochemical and Biophysical Research Communications, 2005
- INTERMEDIATE FILAMENTS: Structure, Dynamics, Function and DiseaseAnnual Review of Biochemistry, 1994
- Storage of saposins A and D in infantile neuronal ceroid‐lipofuscinosisFEBS Letters, 1993
- Canine ceroid-lipofuscinosis — A model for human neuronal ceroid-lipofuscinosis and agingMechanisms of Ageing and Development, 1973