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Mazarakis, N. D.

Publications and source records attributed to Mazarakis, N. D..

5 recordsLinked to original sources

Focal astrocyte Kir4.1 loss drives seizures, spreading depolarizations and postictal impairments

Astrocytic dysfunction is increasingly recognised as an important contributor to epileptogenesis and seizure dynamics. Kir4.1 potassium channels expressed in astrocytes play a critical role in activity-dependent extracellular potassium buffering, and their loss may impair network stability and promote pathological hyperexcitability. In epilepsy, seizures can be accompanied by spreading depolarizations (SDs), propagating waves of neuronal and glial depolarization. While seizure-associated SDs have been proposed to terminate seizures and limit seizure spread, they have also been implicated in postictal dysfunction and sudden unexpected death in epilepsy (SUDEP), and their significance in chronic epilepsy remains unclear. Here, we tested whether focal loss of astrocytic Kir4.1 in the adult hippocampus is sufficient to disrupt potassium buffering, generate spontaneous seizures, and promote seizure-associated SDs. Using astrocyte-targeted viral vector Cre recombinase in adult Kir4.1-floxed mice, we induced focal hippocampal reduction of Kir4.1 expression. This impaired activity-dependent potassium buffering, producing enhanced stimulation-evoked extracellular potassium accumulation and larger DC shifts in hippocampal slices. Chronic wireless EEG recordings demonstrated that focal astrocytic Kir4.1 loss was sufficient to induce spontaneous recurrent seizures and interictal epileptiform activity. To investigate seizure-associated SDs, we combined optogenetic stimulation with graphene-based micro-transistor recordings capable of stable full-bandwidth DC electrophysiology in awake head-fixed mice. Focal hippocampal loss of astrocytic Kir4.1 markedly increased susceptibility to evoked seizures accompanied by SDs. We used chronic wireless DC-coupled video-telemetry recordings to continuously monitor seizure and SD dynamics in freely moving mice. SDs occurred frequently during generalized seizures and were first detected in cortical channels. Seizures accompanied by SDs exhibited greater spectral power, longer duration, and prolonged postictal depression compared with seizures alone. Behaviourally, seizures accompanied by SDs were linked to postictal impairment characterised by behavioural arrest and abnormal motor behaviours. These findings highlight the utility of graphene micro-transistor arrays and chronic DC-coupled telemetry for resolving infraslow (<0.1 Hz) epileptic dynamics that are largely inaccessible using conventional electrophysiological approaches. Ground-truth DC-coupled recordings enabled identification of AC-band electrographic signatures that segregated seizures with SDs from seizures alone, raising the possibility that SD-associated seizures may be retrospectively inferred from conventional AC-coupled epilepsy datasets. We demonstrate that focal astrocytic Kir4.1 loss in the adult brain impairs potassium buffering and is sufficient to drive spontaneous seizures, supporting astrocytic potassium dysregulation as a determinant of seizure and spreading depolarization susceptibility in epilepsy. Furthermore, seizure-associated SDs are strongly linked to increased postictal impairments, supporting the concept that SDs are major determinants of pathological postictal states.

neuroscience↗

Astroglial Dysfunction in Models of CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare developmental epileptic encephalopathy typically caused by loss of function variants in the gene encoding the X-linked serine-threonine kinase CDKL5. CDKL5 is highly expressed in the brain during development, and key neuronal functions of the kinase include cytoskeletal organisation and synaptic stability. However, at present, little is known about the function of astroglia in CDD. Given the importance of these cells in synaptic development and homeostasis, as well as dysfunction in other epileptic diseases, it was hypothesised that astrocytes may contribute to CDD pathology. Induced pluripotent stem cells harbouring a CDKL5 loss-of-function mutation (and isogenic controls) were derived from CDD patient fibroblasts and differentiated into astrocytes (iAstros). Analysis of iAstros revealed transcriptomic, proteomic and functional dysregulation in CDKL5-mutant iAstros relating to water transport and immunological function, including a diminished response to TNF stimulation. Moreover, iAstros showed increased branching and reduced phosphorylation of the known CDKL5 target end-binding protein 2 (EB2) - indicative of disrupted cytoskeletal regulation in a manner similar to CDKL5-null neurons. Finally, we report the generation of novel in vitro models of CDD. CDKL5 was knocked down in adult and foetal human organotypic brain slices through transduction with an AAV encoding a novel CDKL5 shRNA. Slices transduced with the CDKL5 shRNA displayed increased spontaneous network activity, demonstrating the functionality of this model. Importantly, interrogation of these models revealed dysregulation of key astrocytic proteins congruous with the human glial stem cell model. Consequently, this study describes the generation of novel human models of CDD and their associated astrocytic dysfunction - paving the way for novel discovery and therapeutic intervention.

genetics↗

Lymphotoxin-alpha expression in the meninges causes lymphoid tissue formation and neurodegeneration

Lymphotoxin alpha (LT) plays an important role in lymphoid organ development and cellular cytotoxicity in the immune system. LT expression is increased in the cerebrospinal fluid of naive and progressive multiple sclerosis (MS) patients and post-mortem meningeal tissue. Here we show that persistently increased levels of LT in the cerebral meninges can give rise to lymphoid-like structures and underlying MS-like cortical pathology. Stereotaxic injections of recombinant LT into the rat meninges leads to acute meningeal inflammation and subpial demyelination that resolves after 28 days. Injection of an LT lentiviral vector induces lymphoid-like immune cell aggregates, maintained over 3 months, including T-cell rich zones containing podoplanin+ fibroblastic reticular stromal cells and B-cell rich zones with a network of follicular dendritic cells, together with expression of lymphoid chemokines and their receptors. Extensive microglial activation, subpial demyelination and marked neuronal loss occurs in the underlying cortical parenchyma. These results show that chronic LT overexpression is sufficient to induce formation of meningeal lymphoid-like structures and subsequent neurodegeneration. SummaryIncreased release of lymphotoxin-alpha contributes to the pro-inflammatory milieu of the cerebrospinal fluid of MS patients. A persistent elevated expression of this cytokine in the meninges of rats gives rise to chronic inflammation with lymphoid tissue induction and accompanying neurodegenerative and demyelinating pathology in the underlying brain tissue.

neuroscience↗

Meningeal inflammation in multiple sclerosis induces phenotypic changes in cortical microglia that differentially associate with neurodegeneration

Meningeal inflammation strongly associates with demyelination and neuronal loss in the underlying cortex of progressive MS patients, contributing to clinical disability. However, the pathological mechanisms of meningeal inflammation-induced cortical pathology are still largely elusive. Using extensive analysis of human post-mortem tissue, we identified two distinct microglial phenotypes, termed MS1 and MS2, in the cortex of progressive MS patients. These phenotypes differed in morphology and protein expression, but both associated with inflammation of the overlying meninges. We could replicate the MS-specific microglial phenotypes in a novel in vivo rat model for progressive MS-like meningeal inflammation, with microglia present at 1 month post-induction resembling MS1 microglia whereas those at 2 months acquired an MS2-like phenotype. Interestingly, MS1 microglia were involved in presynaptic displacement and phagocytosis and associated with a relative sparing of neurons in the MS and animal cortex. In contrast, the presence of MS2 microglia coincided with substantial neuronal loss. Taken together, we uncovered that in response to meningeal inflammation, microglia acquire two distinct phenotypes that differentially associate with neurodegeneration in the progressive MS cortex. Our data suggests that these phenotypes occur sequentially and that microglia may lose their protective properties over time, contributing to neuronal loss.

neuroscience↗

Neuroinflammation in the normal appearing white matter of multiple sclerosis brain causes abnormalities at the node of Ranvier

Changes to the structure of nodes of Ranvier in the normal-appearing white matter (NAWM) of MS brains are associated with chronic inflammation. We show that the paranodal domains in MS NAWM are longer on average than control, with Kv1.2 channels dislocated into the paranode. These pathological features are reproduced in a model of chronic meningeal inflammation generated by the injection of lentiviral vectors for the lymphotoxin- (LT) and interferon-{gamma} (IFN{gamma}) genes. We show that tumour necrosis factor (TNF), IFN{gamma} and glutamate can provoke paranodal elongation in cerebellar slice cultures, which could be reversed by an NMDA blocker. When these changes were inserted into a computational model to simulate axonal conduction, a rapid decrease in velocity was observed, reaching conduction failure in small diameter axons. We suggest that glial cells activated by proinflammatory cytokines can produce high levels of glutamate, which triggers paranodal pathology, contributing to axonal damage and conduction deficits.

neuroscience↗