Genes (Basel)
October 2023
Background: The intracranial lipomas are rare congenital malformations accounting for approximately 0.1-1.3% of all intracranial tumors, of which Sylvian fissure lipomas account for <5%.
View Article and Find Full Text PDFBackground: Deep brain stimulation of the anterior nucleus of the thalamus (ANT DBS) is a neuromodulation therapy for patients with refractory focal seizures evolving into bilateral tonic-clonic seizures when pharmacotherapy as well other neuromodulation techniques including vagus nerve stimulation or responsive neurostimulation have failed.
Objective: We performed a prospective single-center study investigating the clinical efficacy and exact ANT DBS lead location in patients with DRE.
Methods: The primary outcome measure was the proportion of patients with more than 50 % reduction in diary-recorded seizures when compared to three preoperative months (baseline seizure frequency).
Front Cell Neurosci
May 2023
Metalloproteinase-9 (MMP-9) is one of the most strongly expressed matrix metalloproteinases (MMPs) in the brain. The MMP-9 activity in the brain is strictly regulated, and any disruptions in this regulation contribute to a development of many disorders of the nervous system including multiple sclerosis, brain strokes, neurodegenerative disorders, brain tumors, schizophrenia, or Guillain-Barré syndrome. This article discusses a relationship between development of the nervous system diseases and the functional single nucleotide polymorphism (SNP) at position -1562C/T within the MMP-9 gene.
View Article and Find Full Text PDFGliomas are the most common primary malignant intracranial brain tumors. Their proliferative and invasive behavior is controlled by various epigenetic mechanisms. 5-hydroxymethylcytosine (5-hmC) is one of the epigenetic DNA modifications that employs ten-eleven translocation (TET) enzymes to its oxidation.
View Article and Find Full Text PDFBackground: Deep brain stimulation (DBS) is considered a relatively new and still experimental therapeutic modality for treatment-resistant depression (TRD). There is clinical evidence to suggest that stimulation of the subcallosal cingulate cortex (SCC) involved in the pathogenesis of TRD may exert an antidepressant effect.
Aims: To conduct a systematic review of current studies, such as randomized clinical trials (RCTs), open-label trials, and placebo-controlled trials, examining SCC DBS for TRD in human participants.
Herein, we discuss data concerning the involvement of transcription factor Yin Yang 1 (YY1) in the development of brain diseases, highlighting mechanisms of its pathological actions. YY1 plays an important role in the developmental and adult pathology of the nervous system. YY1 is essential for neurulation as well as maintenance and differentiation of neuronal progenitor cells and oligodendrocytes regulating both neural and glial tissues of the brain.
View Article and Find Full Text PDFBackground: Since the new World Health Organization (WHO) classification of nervous system tumors (2016, revised, 4th edition) has been released, gliomas are classified depending on molecular and genetic markers in connection with histopathology, instead of histopathology itself as it was in the previous classification. Over the last years, epigenetic analysis has taken on increased importance in the diagnosis and treatment of different cancers. Multiple studies confirmed that deoxyribonucleic acid (DNA) methylation and hydroxymethylation play an important role in the regulation of gene expression during carcinogenesis.
View Article and Find Full Text PDFJ Neurol Surg A Cent Eur Neurosurg
November 2021
Introduction: Deep brain stimulation of the anterior nucleus of the thalamus (ANT DBS) is a neuromodulation therapy for patients with refractory partial seizures. The ANT is the structure of a limbic system with abundant neuronal connections to temporal and frontal brain regions that participate in seizure propagation circuitry.
State Of The Art: We have performed a literature search regarding the clinical efficacy of ANT DBS.
Objectives: The study aimed to present a family with myoclonus dystonia (M-D) syndrome due to a mutation in the epsilon sarcoglycan gene (SGCE). Three members of the family suffered from treatment-refractory severe myoclonic jerks of the neck, trunk, and upper extremities. The mild dystonic symptoms recognized as cervical dystonia or truncal dystonia affected all individuals.
View Article and Find Full Text PDFBackground: Status epilepticus (SE) and super-refractory status epilepticus (SRSE) are life-threatening medical emergencies. The first-line treatment for SE or SRSE includes i. v.
View Article and Find Full Text PDFThe angiomotin (Amot)-Yes-associated protein 1 (Yap1) complex plays a major role in regulating the inhibition of cell contact, cellular polarity, and cell growth in many cell types. However, the function of Amot and the Hippo pathway transcription coactivator Yap1 in the central nervous system remains unclear. We found that Amot is a critical mediator of dendritic morphogenesis in cultured hippocampal cells and Purkinje cells in the brain.
View Article and Find Full Text PDFMatrix metalloproteinase-9 (Mmp-9) is involved in different general and cell-type-specific processes, both in neuronal and non-neuronal cells. Moreover, it is implicated in an induction or progression of various human disorders, including diseases of the central nervous system. Mechanisms regulating activity-driven Mmp-9 expression in neurons are still not fully understood.
View Article and Find Full Text PDFEnhanced levels of Matrix Metalloproteinase-9 (MMP-9) have been implicated in the pathogenesis of epilepsy in humans and rodents. Lack of Mmp-9 impoverishes, whereas excess of Mmp-9 facilitates epileptogenesis. Epigenetic mechanisms driving the epileptogenesis-related upregulation of MMP-9 expression are virtually unknown.
View Article and Find Full Text PDFPML is a tumor suppressor protein involved in the pathogenesis of promyelocytic leukemia. In non-neuronal cells, PML is a principal component of characteristic nuclear bodies. In the brain, PML has been implicated in the control of embryonic neurogenesis, and in certain physiological and pathological phenomena in the adult brain.
View Article and Find Full Text PDFStudies in cultured cells have demonstrated the existence of higher-order epigenetic mechanisms, determining the relationship between expression of the gene and its position within the cell nucleus. It is unknown, whether such mechanisms operate in postmitotic, highly differentiated cell types, such as neurons in vivo. Accordingly, we examined whether the intranuclear positions of Bdnf and Trkb genes, encoding the major neurotrophin and its receptor respectively, change as a result of neuronal activity, and what functional consequences such movements may have.
View Article and Find Full Text PDFMatrix metalloproteinases (MMPs) are key regulators of extracellular matrix remodeling, but have also important intracellular targets. The purpose of this study was to examine the activity and subcellular localization of the gelatinases MMP-2 and MMP-9 in skeletal muscle of control and physically trained rats. In control hind limb muscle, the activity of the gelatinases was barely detectable.
View Article and Find Full Text PDFMatrix Metalloproteinase-9 (MMP-9) is an extracellularly operating enzyme involved in the synaptic plasticity, hippocampal-dependent long term memory and neurodegeneration. Previous studies have shown its upregulation following seizure-evoking stimuli. Herein, we show that in the rat brain, MMP-9 mRNA expression in response to pentylenetetrazole-evoked neuronal depolarization is transient.
View Article and Find Full Text PDFMembrane depolarization controls long lasting adaptive neuronal changes in brain physiology and pathology. Such responses are believed to be gene expression-dependent. Notably, however, only a couple of gene repressors active in nondepolarized neurons have been described.
View Article and Find Full Text PDFYin Yang 1 (YY1) is a ubiquitous transcription factor belonging to Polycomb group proteins. Its expression patterns in the adult brain have not been before clearly elucidated. Using immunohistochemical stainings, we show a distribution of YY1 protein throughout the adult rodent brain.
View Article and Find Full Text PDFAdult neurogenesis (i.e., proliferation and differentiation of neuronal precursors in the adult brain) is responsible for adding new neurons in the dentate gyrus of the hippocampus and in the olfactory bulb.
View Article and Find Full Text PDFMore than 20 matrix metalloproteinases (MMPs) and four of their endogenous tissue inhibitors (TIMPs) act together to control tightly temporally restricted, focal proteolysis of extracellular matrix. In the neurons of the adult brain several components of the TIMP/MMP system are expressed and are responsive to changes in neuronal activity. Furthermore, functional studies, especially involving blocking of MMP activities, along with the identification of MMP substrates in the brain strongly suggest that this enzymatic system plays an important physiological role in adult brain neurons, possibly being pivotal for neuronal plasticity.
View Article and Find Full Text PDFActivator protein-1 (AP-1) is a transcription factor involved in many aspects of the brain physiology and pathophysiology. In spite of strong engagement in a transcriptional regulation of the brain gene expression, only a few, if any, downstream AP-1 targets have unequivocally been identified so far. In the review we discuss only the best characterized AP-1 target genes in the brain, and we highlight the shortages of our understanding of AP-1 action in the central nervous system as well as indicate what could be done to ameliorate the situation.
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