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Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit.

Abstract：

:We describe the genetic and kinetic defects in a congenital myasthenic syndrome caused by heteroallelic mutations of the acetylcholine receptor (AChR) epsilon subunit gene. The mutations are an in-frame duplication of six residues in the long cytoplasmic loop (epsilon1254ins18) and a cysteine-loop null mutation (epsilonC128S). The epsilon1254 ins18 mutation causes mode switching in the kinetics of receptor activation in which three modes activate slowly and inactivate rapidly. The epsilon1245ins18-AChR at the endplate shows abnormally brief activation episodes during steady state agonist application and appears electrically silent during the synaptic response to acetylcholine. The phenotypic consequences are endplate AChR deficiency, simplification of the postsynaptic region, and compensatory expression of fetal AChR that restores electrical activity at the endplate and rescues the phenotype.

journal_name

Neuron

journal_title

Neuron

authors

Milone M,Wang HL,Ohno K,Prince R,Fukudome T,Shen XM,Brengman JM,Griggs RC,Sine SM,Engel AG

doi

10.1016/s0896-6273(00)80996-4

subject

Has Abstract

pub_date

1998-03-01 00:00:00

pages

575-88

issue

3

eissn

0896-6273

issn

1097-4199

pii

S0896-6273(00)80996-4

journal_volume

20

pub_type

杂志文章

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