Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants.

Abstract:

:The pancreatic ATP-sensitive potassium channels comprise two subunits: SUR1 and Kir6.2. Two SUR1 mutations, A116P and V187D, reduce channel activity causing persistent hyperinsulinemic hypoglycemia of infancy. We investigated whether these mutations cause temperature sensitive misfolding. We show that the processing defect of these mutants is temperature sensitive and these two mutations disrupt the association between SUR1 and Kir6.2 by causing misfolding in SUR1 at 37 degrees C but can be rescued at 18 degrees C. Extensive electrophysiological characterization of these mutants indicated that low temperature largely, if not completely, corrects the folding defect of these two SUR1 mutants observed at 37 degrees C.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Yang K,Fang K,Fromondi L,Chan KW

doi

10.1016/j.febslet.2005.06.039

keywords:

subject

Has Abstract

pub_date

2005-08-01 00:00:00

pages

4113-8

issue

19

eissn

0014-5793

issn

1873-3468

pii

S0014-5793(05)00776-3

journal_volume

579

pub_type

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