Structure of potassium channels

Kuang, Qie; Purhonen, Pasi; Hebert, Hans

doi:10.1007/s00018-015-1948-5

Cited by 228 publications

(210 citation statements)

References 135 publications

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“…According to their structure and functions, K + channels are segregated into four categories: the voltage‐gated channels, inwardly rectifying (Kir), tandem pore domain (K2P), and the ligand‐gated (Kligand) channels (Kuang, Purhonen, & Hebert, 2015). They all share a pore‐forming α subunit but different regulatory subunits are identified in each group.…”

Section: Reviewmentioning

confidence: 99%

“…They all share a pore‐forming α subunit but different regulatory subunits are identified in each group. Ca 2+ ‐activated potassium channels (BK Ca ) are ligand‐gated K + channels that participate to several cell functions such as the regulation of hormone and neurotransmitter releases (Kuang et al., 2015). In fact, BK Ca are abundantly distributed throughout the brain and are mainly localized at presynaptic terminals, where they partake in the adjustment of synaptic transmission and neuronal excitability (Kuang et al., 2015; Laumonnier et al., 2006).…”

Section: Reviewmentioning

confidence: 99%

“…A recent study demonstrated a large spectrum of ASD phenotypes associated with the 15q11–13 microdeletions. This region includes the CHRNA7 locus suggesting that CHRNA7 is a critical gene in ASD (Kuang et al., 2015; Laumonnier et al., 2006). …”

Section: Reviewmentioning

confidence: 99%

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Autism throughout genetics: Perusal of the implication of ion channels

et al. 2018

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BackgroundAutism spectrum disorder (ASD) comprises a group of neurodevelopmental psychiatric disorders characterized by deficits in social interactions, interpersonal communication, repetitive and stereotyped behaviors and may be associated with intellectual disabilities. The description of ASD as a synaptopathology highlights the importance of the synapse and the implication of ion channels in the etiology of these disorders.MethodsA narrative and critical review of the relevant papers from 1982 to 2017 known by the authors was conducted.ResultsGenome‐wide linkages, association studies, and genetic analyses of patients with ASD have led to the identification of several candidate genes and mutations linked to ASD. Many of the candidate genes encode for proteins involved in neuronal development and regulation of synaptic function including ion channels and actors implicated in synapse formation. The involvement of ion channels in ASD is of great interest as they represent attractive therapeutic targets. In agreement with this view, recent findings have shown that drugs modulating ion channel function are effective for the treatment of certain types of patients with ASD.ConclusionThis review describes the genetic aspects of ASD with a focus on genes encoding ion channels and highlights the therapeutic implications of ion channels in the treatment of ASD.

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Section: Reviewmentioning

confidence: 99%

Section: Reviewmentioning

confidence: 99%

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Autism throughout genetics: Perusal of the implication of ion channels

et al. 2018

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Section: K ϩ Channelsmentioning

confidence: 99%

“…Because of differences in structure and function, they are grouped in voltage-gated (K v ), inwardly rectifying (K ir ), tandem pore domain (K2P), and ligandgated (K ligand ) classes (77). Irrespective of the class, KCs are composed by a pore-forming domain and a regulatory domain (77). Table 6 summarizes the nomenclature and composition of the channels referred in this article; their roles in the healthy intestinal epithelium are presented here, whereas their changes in IBD and experimental colitis are referred in Table 7.…”

Section: K ϩ Channelsmentioning

confidence: 99%

Role of epithelial ion transports in inflammatory bowel disease

Magalhães

Cabral

Soares‐da‐Silva

et al. 2016

American Journal of Physiology-Gastrointestinal and Liver Physi

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Inflammatory bowel disease (IBD) is a chronic inflammatory disorder with a complex pathogenesis. Diarrhea is a highly prevalent and often debilitating symptom of IBD patients that results, at least in part, from an intestinal hydroelectrolytic imbalance. Evidence suggests that reduced electrolyte absorption is more relevant than increased secretion to this disequilibrium. This systematic review analyses and integrates the current evidence on the roles of epithelial Na+-K+-ATPase (NKA), Na+/H+ exchangers (NHEs), epithelial Na+ channels (ENaC), and K+ channels (KC) in IBD-associated diarrhea. NKA is the key driving force of the transepithelial ionic transport and its activity is decreased in IBD. In addition, the downregulation of apical NHE and ENaC and the upregulation of apical large-conductance KC all contribute to the IBD-associated diarrhea by lowering sodium absorption and/or increasing potassium secretion.

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

et al. 2017

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Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.OBJECTIVES To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. DESIGN, SETTING, AND PARTICIPANTSThis study summarized the clinical and genetic information of patients with a presumed pathogenic variant in KCNB1. Patients were identified in research projects or during clinical testing. Information on patients from previously published articles was collected and authors contacted if feasible. All patients were seen at a clinic at one of the participating institutes because of presumed genetic disorder. They were tested in a clinical setting or included in a research project. MAIN OUTCOMES AND MEASURESThe genetic variant and its inheritance and information on the patient's symptoms and characteristics in a predefined format. All variants were identified with massive parallel sequencing and confirmed with Sanger sequencing in the patient. Absence of the variant in the parents could be confirmed with Sanger sequencing in all families except one. RESULTSOf 26 patients (10 female, 15 male, 1 unknown; mean age at inclusion, 9.8 years; age range, 2-32 years) with developmental delay, 20 (77%) carried a missense variant in the ion channel domain of KCNB1, with a concentration of variants in region S5 to S6. Three variants that led to premature stops were located in the C-terminal and 3 in the ion channel domain. Twenty-one of 25 patients (84%) had seizures, with 9 patients (36%) starting with epileptic spasms between 3 and 18 months of age. All patients had developmental delay, with 17 (65%) experiencing severe developmental delay; 14 (82%) with severe delay had behavioral problems. The developmental delay was milder in 4 of 6 patients with stop variants and in a patient with a variant in the S2 transmembrane element rather than the S4 to S6 region. CONCLUSIONS AND RELEVANCEDe novo KCNB1 missense variants in the ion channel domain and loss-of-function variants in this domain and the C-terminal likely cause neurodevelopmental disorders with or without seizures. Patients with presumed pathogenic variants in KCNB1 have a variable phenotype. However, the type and position of the variants in the protein are (imperfectly) correlated with the severity of the disorder.

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Structure of potassium channels

Cited by 228 publications

References 135 publications

Autism throughout genetics: Perusal of the implication of ion channels

Autism throughout genetics: Perusal of the implication of ion channels

Role of epithelial ion transports in inflammatory bowel disease

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

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