Batten disease and the control of the Fo subunit c pore by cGMP and calcium

Subunit c of ATP synthase functions as a high conductance ion channel, tightly regulated by calcium. We have suggested that the pathogenesis of Batten syndromes involving overaccumulation of subunit c are linked to the protein's ion channel function. In normal electrically excitable tissue the...

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Bibliographic Details
Published in:European journal of paediatric neurology 2001, Vol.5 Suppl A, p.147-150
Main Authors: McGeoch, J E, Guidotti, G
Format: Article
Language:English
Subjects:
Animals
Apoptosis - physiology
Calcium - metabolism
Cattle
Cyclic GMP - metabolism
Ion Channel Gating - physiology
Microscopy, Electron
Mitochondrial Proton-Translocating ATPases
Nerve Degeneration - metabolism
Neuronal Ceroid-Lipofuscinoses - metabolism
Proton-Translocating ATPases - metabolism
Proton-Translocating ATPases - ultrastructure
Rats
Sheep
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Summary:Subunit c of ATP synthase functions as a high conductance ion channel, tightly regulated by calcium. We have suggested that the pathogenesis of Batten syndromes involving overaccumulation of subunit c are linked to the protein's ion channel function. In normal electrically excitable tissue the channel could act as a pacer setting nodal voltage via control of cation entry. The channel conductance is controlled by voltage, calcium, cyclic nucleotides and polyamines. We discuss the pathogenic role that subunit c could play in the electrically excitable tissues of retina, brain and heart where Batten neurodegeneration is seen. Focus is given to potential links between subunit c and the known mutant gene products in the Batten diseases, the process of apoptosis, and the requirement of the growing brain for gradients of cGMP, a ligand of the subunit c channel.
ISSN:1090-3798
DOI:10.1053/ejpn.2000.0452