Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy DOI Open Access
Eric R. Wengert,

Melody A Cheng,

Sophie R Liebergall

и другие.

Опубликована: Дек. 2, 2024

The recurrent pathogenic variant KCNC1 -p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe delay/intellectual disability, infantile-onset treatment-resistant epilepsy with multiple seizure types including myoclonic seizures. Yet, the mechanistic basis disease unclear. encodes Kv3.1, voltage-gated potassium channel subunit that highly selectively expressed in neurons capable generating action potentials at high frequency, parvalbumin-positive fast-spiking GABAergic inhibitory interneurons cerebral cortex (PV-INs) known to be important for cognitive function plasticity as well control network excitation prevent In this study, we generate novel transgenic mouse model conditional expression Ala421Val missense ( Kcnc1 -A421V/+ mice) explore physiological mechanisms encephalopathy. Our results indicate global heterozygous A421V leads premature lethality. We observe decreased PV-IN cell surface Kv3.1 via immunohistochemistry, current density PV-INs using outside-out nucleated macropatch recordings brain slice, profound impairments intrinsic excitability but not excitatory current-clamp electrophysiology. vivo two-photon calcium imaging revealed hypersynchronous discharges correlated brief paroxysmal movements, subsequently shown seizures on electroencephalography. found alterations PV-IN-mediated neurotransmission young adult juvenile mice relative wild-type controls. Together, these establish impact Kv3.1-A421V neuronal synaptic physiology across development drive dysfunction underlying

Язык: Английский

Parvalbumin Interneuron Dysfunction in Neurological Disorders: Focus on Epilepsy and Alzheimer’s Disease DOI Open Access
Beulah Leitch

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(10), С. 5549 - 5549

Опубликована: Май 19, 2024

Parvalbumin expressing (PV+) GABAergic interneurons are fast spiking neurons that provide powerful but relatively short-lived inhibition to principal excitatory cells in the brain. They play a vital role feedforward and feedback synaptic inhibition, preventing run away excitation neural networks. Hence, their dysfunction can lead hyperexcitability increased susceptibility seizures. PV+ also key players generating gamma oscillations, which synchronized oscillations associated with various cognitive functions. interneuron particularly vulnerable aging degeneration has been decline memory impairment dementia Alzheimer’s disease (AD). Overall, of disrupts normal excitatory/inhibitory balance within specific neurocircuits brain thus linked wide range neurodevelopmental neuropsychiatric disorders. This review focuses on dysfunctional inhibitory generation epileptic seizures potential as targets design future therapeutic strategies treat these Recent research using cutting-edge optogenetic chemogenetic technologies demonstrated they be selectively manipulated control restore activity brains animal models. suggests could important developing treatments for patients epilepsy comorbid disorders, such AD, where directly deficits.

Язык: Английский

Процитировано

12

A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction DOI
Jérôme Clatot, Christopher Brian Currin, Qiansheng Liang

и другие.

Proceedings of the National Academy of Sciences, Год журнала: 2024, Номер 121(3)

Опубликована: Янв. 9, 2024

De novo heterozygous variants in KCNC2 encoding the voltage-gated potassium (K + ) channel subunit Kv3.2 are a recently described cause of developmental and epileptic encephalopathy (DEE). A de variant c.374G > (p.Cys125Tyr) was identified via exome sequencing patient with DEE. Relative to wild-type Kv3.2, Kv3.2-p.Cys125Tyr induces K currents exhibiting large hyperpolarizing shift voltage dependence activation, accelerated delayed deactivation consistent relative stabilization open conformation, along increased current density. Leveraging cryogenic electron microscopy (cryo-EM) structure Kv3.1, molecular dynamic simulations suggest that strong π-π stacking interaction between Tyr125 Tyr156 α-6 helix T1 domain promotes conformation channel, which underlies observed gain function. multicompartment computational model Kv3-expressing parvalbumin-positive cerebral cortex fast-spiking γ-aminobutyric acidergic (GABAergic) interneuron (PV-IN) demonstrates how Kv3.2-Cys125Tyr impairs neuronal excitability dysregulates inhibition circuits explain resulting epilepsy.

Язык: Английский

Процитировано

10

The binding and mechanism of a positive allosteric modulator of Kv3 channels DOI Creative Commons
Qiansheng Liang, Gamma Chi, Leonardo Cirqueira

и другие.

Nature Communications, Год журнала: 2024, Номер 15(1)

Опубликована: Март 21, 2024

Abstract Small-molecule modulators of diverse voltage-gated K + (Kv) channels may help treat a wide range neurological disorders. However, developing effective requires understanding their mechanism action. We apply an orthogonal approach to elucidate the action imidazolidinedione derivative (AUT5), highly selective positive allosteric modulator Kv3.1 and Kv3.2 channels. AUT5 modulation involves cooperativity preferential stabilization open state. The cryo-EM structure Kv3.1/AUT5 complex at resolution 2.5 Å reveals four equivalent binding sites extracellular inter-subunit interface between voltage-sensing pore domains channel’s tetrameric assembly. Furthermore, we show that unique turret regions essentially govern by AUT5. High-resolution apo bound structures demonstrate how promotes rearrangements interactions with domain favor conformation.

Язык: Английский

Процитировано

9

Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders DOI Creative Commons

Isabel E Faulkner,

Rachael Z Pajak,

Michael Harte

и другие.

Frontiers in Cellular Neuroscience, Год журнала: 2024, Номер 18

Опубликована: Окт. 1, 2024

Voltage-gated potassium channels are a widely distributed subgroup of responsible for the efflux in repolarisation cell membrane, and hence contribute to latency propagation action potentials. As they causal synaptic transmission, alterations structure these can lead variety neurological psychiatric diseases. The Kv3 subfamily voltage-gated found on many neurons brain, including inhibitory interneurons where fast-frequency firing. Changes firing ability an imbalance excitatory neurotransmission. To date, we have little understanding mechanism by which inputs become imbalanced. This is associated with cognitive deficits seen across neuropsychiatric disorders, currently difficult treat. In this review, collate evidence supporting hypothesis that channels, specifically subfamily, central may thus be considered as effective drug target. collective provided studies reviewed here demonstrates amenable novel treatments modulate activity prospect improved patient outcome.

Язык: Английский

Процитировано

4

Voltage-gated ion channels in epilepsies: circuit dysfunctions and treatments DOI
Dominique Debanne,

Konstantina Mylonaki,

Maria Laura Musella

и другие.

Trends in Pharmacological Sciences, Год журнала: 2024, Номер 45(11), С. 1018 - 1032

Опубликована: Окт. 14, 2024

Язык: Английский

Процитировано

1

Mitigating sTNF/TNFR1 activation on VGluT2+ spinal cord interneurons improves immune function after mid-thoracic spinal cord injury DOI
Tetyana Martynyuk, J. Ricard, Valerie Bracchi‐Ricard

и другие.

Опубликована: Июль 13, 2024

Abstract Spinal cord injury (SCI) is a devastating condition with 250,000 to 500,000 new cases globally each year. Respiratory infections, e.g., pneumonia and influenza are the leading cause of death after SCI. Unfortunately, there poor understanding how altered neuro-immune communication impacts an individual’s outcome infection. In humans rodents, SCI leads maladaptive changes in spinal-sympathetic reflex (SSR) circuit which crucial sympathetic function. The impaired immune function may be related harmful neuroinflammation detrimental homeostatic neuronal function, aberrant plasticity, hyperexcitable circuits. Soluble tumor necrosis factor (sTNF) pro-inflammatory cytokine that elevated CNS remains for several months injury. By pharmacologically attenuating sTNF we were able demonstrate improved Furthermore, when investigated specific cellular population involved reported excessive TNFR1 activity on excitatory INs promotes dysfunction. this observation NF-kB dependent VGluT2+ INs. Our data first report target within CNS, TNFR1, contributes SCI-induced dysfunction T9-SCI potential avenue future therapeutics.

Язык: Английский

Процитировано

0

Impaired excitability of fast-spiking neurons in a novel mouse model ofKCNC1epileptic encephalopathy DOI Creative Commons
Eric R. Wengert,

Melody A Cheng,

Sophie R Liebergall

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Сен. 27, 2024

The recurrent pathogenic variant

Язык: Английский

Процитировано

0

Mitigating sTNF/TNFR1 activation on VGluT2 + spinal cord interneurons improves immune function after mid-thoracic spinal cord injury DOI
Tetyana Martynyuk, J. Ricard, Valerie Bracchi‐Ricard

и другие.

Brain Behavior and Immunity, Год журнала: 2024, Номер 123, С. 633 - 643

Опубликована: Окт. 15, 2024

Язык: Английский

Процитировано

0

Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy DOI Open Access
Eric R. Wengert,

Melody A Cheng,

Sophie R Liebergall

и другие.

Опубликована: Дек. 2, 2024

The recurrent pathogenic variant KCNC1 -p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe delay/intellectual disability, infantile-onset treatment-resistant epilepsy with multiple seizure types including myoclonic seizures. Yet, the mechanistic basis disease unclear. encodes Kv3.1, voltage-gated potassium channel subunit that highly selectively expressed in neurons capable generating action potentials at high frequency, parvalbumin-positive fast-spiking GABAergic inhibitory interneurons cerebral cortex (PV-INs) known to be important for cognitive function plasticity as well control network excitation prevent In this study, we generate novel transgenic mouse model conditional expression Ala421Val missense ( Kcnc1 -A421V/+ mice) explore physiological mechanisms encephalopathy. Our results indicate global heterozygous A421V leads premature lethality. We observe decreased PV-IN cell surface Kv3.1 via immunohistochemistry, current density PV-INs using outside-out nucleated macropatch recordings brain slice, profound impairments intrinsic excitability but not excitatory current-clamp electrophysiology. vivo two-photon calcium imaging revealed hypersynchronous discharges correlated brief paroxysmal movements, subsequently shown seizures on electroencephalography. found alterations PV-IN-mediated neurotransmission young adult juvenile mice relative wild-type controls. Together, these establish impact Kv3.1-A421V neuronal synaptic physiology across development drive dysfunction underlying

Язык: Английский

Процитировано

0

Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy DOI Open Access
Eric R. Wengert,

Melody A Cheng,

Sophie R Liebergall

и другие.

Опубликована: Дек. 2, 2024

The recurrent pathogenic variant KCNC1 -p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe delay/intellectual disability, infantile-onset treatment-resistant epilepsy with multiple seizure types including myoclonic seizures. Yet, the mechanistic basis disease unclear. encodes Kv3.1, voltage-gated potassium channel subunit that highly selectively expressed in neurons capable generating action potentials at high frequency, parvalbumin-positive fast-spiking GABAergic inhibitory interneurons cerebral cortex (PV-INs) known to be important for cognitive function plasticity as well control network excitation prevent In this study, we generate novel transgenic mouse model conditional expression Ala421Val missense ( Kcnc1 -A421V/+ mice) explore physiological mechanisms encephalopathy. Our results indicate global heterozygous A421V leads premature lethality. We observe decreased PV-IN cell surface Kv3.1 via immunohistochemistry, current density PV-INs using outside-out nucleated macropatch recordings brain slice, profound impairments intrinsic excitability but not excitatory current-clamp electrophysiology. vivo two-photon calcium imaging revealed hypersynchronous discharges correlated brief paroxysmal movements, subsequently shown seizures on electroencephalography. found alterations PV-IN-mediated neurotransmission young adult juvenile mice relative wild-type controls. Together, these establish impact Kv3.1-A421V neuronal synaptic physiology across development drive dysfunction underlying

Язык: Английский

Процитировано

0