The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Mitochondrial ATP synthase subunit c storage in the ceroid‐lipofuscinoses (Batten disease)
Abstract
The ceroid‐lipofuscinoses (Batten disease) are neurodegenerative inherited lysosomal storage diseases of children and animals. A common finding is the occurrence of fluorescent storage bodies (lipopigment) in cells. These have been isolated from tissues of affected sheep. Direct protein sequencing established that the major component is identical to the dicyclohexylcarbodiimide (DCCD) reactive proteolipid, subunit c, of mitochondrial ATP synthase and that this protein accounts for at least 50% of the storage body mass. No other mitochondrial components are stored. Direct sequencing of storage bodies isolated from tissues of children with juvenile and late infantile ceroid‐lipofuscinosis established that they also contain large amounts of complete and normal subunit c. It is also stored in the disease in cattle and dogs but is not present in storage bodies from the human infantile form. Subunit c is normally found as part of the mitochondrial ATP synthase complex and accounts for 2–4% of the inner mitochondrial membrane protein. Mitochondria from affected sheep contain normal amounts of this protein. The P1 and P2 genes that code for it are normal as are mRNA levels. Oxidative phosphorylation is also normal. These findings suggest that ovine ceroid‐lipofuscinosis is caused by a specific failure in the degradation of subunit c after its normal inclusion into mitochondria, and its consequent abnormal accumulation in lysosomes. This implies a unique pathway for subunit c degradation. It is probable that the human late infantile and juvenile diseases and the disease in cattle and dogs involve lesions in the same pathway.
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Cited by
Isolation of a novel gene underlying batten disease, CLN3
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Self-citationYou say lipofuscin, we say ceroid: Defining autofluorescent storage material
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Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders
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Metadata
- Authors
- Palmer, D. N., Fearnley, I. M., Walker, J. E., Hall, N. A., Lake, B. D., Wolfe, L. S., Haltia, M., Martinus, R. D., & Jolly, R. D.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1992-02-15
- Volume
- 42
- Issue
- 4
- Pages
- 561-567
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2165298990
- Cited by
- 361
- References
- 24
- FWCI
- 12.39
- Type
- journal article
- Language
- en
- Open access
- closed
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- Palmer, D. N., Fearnley, I. M., Walker, J. E., Hall, N. A., Lake, B. D., Wolfe, L. S., Haltia, M., Martinus, R. D., & Jolly, R. D. (1992). Mitochondrial ATP synthase subunit c storage in the ceroid‐lipofuscinoses (Batten disease). American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.1320420428
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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