Methods for characterizing disease-associated ATP-sensitive potassium channel mutations

Balamurugan Kandasamy, Show Ling Shyng

Research output: ResearchChapter

Abstract

The ATP-sensitive potassium (KATP) channel formed by the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1 (SUR1) plays a key role in regulating insulin secretion. Genetic mutations in KCNJ11 or ABCC8 which encode Kir6.2 and SUR1 respectively are major causes of insulin secretion disorders: those causing loss of channel function lead to congenital hyperinsulinism, whereas those causing gain of channel function result in neonatal diabetes and in some cases developmental delay, epilepsy, and neonatal diabetes, referred to as the DEND syndrome. Understanding how disease mutations disrupt channel expression and function is important for disease diagnosis and for devising effective therapeutic strategies. Here, we describe a workflow including several biochemical and functional assays to assess the effects of mutations on channel expression and function.

LanguageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages85-104
Number of pages20
Volume1684
DOIs
StatePublished - 2018

Publication series

NameMethods in Molecular Biology
Volume1684
ISSN (Print)1064-3745

Fingerprint

KATP Channels
Mutation
Sulfonylurea Receptors
Adenosine Triphosphate
Insulin
Congenital Hyperinsulinism
Inwardly Rectifying Potassium Channel
Workflow
Potassium
Therapeutics
Developmental Delay, Epilepsy, and Neonatal Diabetes

Keywords

  • Channelopathy
  • Congenital hyperinsulinism
  • DEND syndrome
  • Inwardly rectifying potassium channel Kir6.2
  • K channel
  • Neonatal diabetes
  • Sulfonylurea receptor 1

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Kandasamy, B., & Shyng, S. L. (2018). Methods for characterizing disease-associated ATP-sensitive potassium channel mutations. In Methods in Molecular Biology (Vol. 1684, pp. 85-104). (Methods in Molecular Biology; Vol. 1684). Humana Press Inc.. DOI: 10.1007/978-1-4939-7362-0_8

Methods for characterizing disease-associated ATP-sensitive potassium channel mutations. / Kandasamy, Balamurugan; Shyng, Show Ling.

Methods in Molecular Biology. Vol. 1684 Humana Press Inc., 2018. p. 85-104 (Methods in Molecular Biology; Vol. 1684).

Research output: ResearchChapter

Kandasamy, B & Shyng, SL 2018, Methods for characterizing disease-associated ATP-sensitive potassium channel mutations. in Methods in Molecular Biology. vol. 1684, Methods in Molecular Biology, vol. 1684, Humana Press Inc., pp. 85-104. DOI: 10.1007/978-1-4939-7362-0_8
Kandasamy B, Shyng SL. Methods for characterizing disease-associated ATP-sensitive potassium channel mutations. In Methods in Molecular Biology. Vol. 1684. Humana Press Inc.2018. p. 85-104. (Methods in Molecular Biology). Available from, DOI: 10.1007/978-1-4939-7362-0_8
Kandasamy, Balamurugan ; Shyng, Show Ling. / Methods for characterizing disease-associated ATP-sensitive potassium channel mutations. Methods in Molecular Biology. Vol. 1684 Humana Press Inc., 2018. pp. 85-104 (Methods in Molecular Biology).
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