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

Authors: McGeoch, J E  Guidotti, G 
Citation: McGeoch JE and Guidotti G, Eur J Paediatr Neurol. 2001;5 Suppl A:147-50.
Pubmed: (View Article at PubMed) PMID:11588987

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.


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CRRD Object Information
CRRD ID: 13800751
Created: 2018-10-17
Species: All species
Last Modified: 2018-10-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.