Ion pores made of mitochondrial ATP synthase subunit c in the neuronal plasma membrane and Batten disease.
A hypothesis is outlined that the neurodegeneration of the Batten disease syndromes that involve an overaccumulation of subunit c is caused by a newly characterized function of the protein, its ability to assemble in the plasma membrane into ion pores (J. E. M. McGeoch and G. Guidotti, Brain Res 766: 188-194, 1997), rendering the cell liable to constant electrical excitability to a degree that causes cell death.
McGeoch
J E
JE
Department of Molecular and Cellular Biology, Harvard University, 7 Divinity Avenue, Cambridge, Massachusetts 02138, USA. mcgeoh@fas.harvard.edu
Palmer
D N
DN
D002462:Cell Membrane / Q000378:metabolism*; D004594:Electrophysiology; D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D008928:Mitochondria / Q000201:enzymology*; D008954:Models, Biological; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism*; D018408:Patch-Clamp Techniques; D006180:Proton-Translocating ATPases / Q000378:metabolism*
D007473:Ion Channels; D006180:Proton-Translocating ATPases