Building a synapse: genetic analysis of glutamatergic neurotransmission

2006 ◽  
Vol 34 (1) ◽  
pp. 64-67 ◽  
Author(s):  
P.J. Brockie ◽  
A.V. Maricq
Keyword(s):  
Nervous System ◽  
Genetic Analysis ◽  
Transmembrane Protein ◽  
Molecular Architecture ◽  
Glutamatergic Synapses ◽  
Auxiliary Subunit ◽  
Cub Domain ◽  
Important Challenge ◽  
Excitatory Neurotransmission ◽  
Vertebrate Central Nervous System

Ionotropic glutamate receptors (iGluRs) are a critical component of the vertebrate central nervous system and mediate the majority of rapid excitatory neurotransmission. However, iGluRs are not self-regulating molecules and require additional proteins in order to function properly. Understanding the molecular architecture of functional glutamatergic synapses is therefore an important challenge in neurobiology. To address this question, we combine the techniques of genetics, molecular biology and electrophysiology in the nematode Caenorhabditis elegans. To date, genetic analysis has identified a number of genes required to build a glutamatergic synapse, including the CUB-domain transmembrane protein, SOL-1, which is thought to act as an auxiliary subunit that directly modifies iGluR function. Identifying and characterizing new proteins, such as SOL-1, in the relatively simple nervous system of the worm can contribute to our understanding of how more complex vertebrate nervous systems function.

scholarly journals Persistent cognitive impairment associated with cerebrospinal fluid anti-SARS-CoV-2 antibodies six months after mild COVID-19

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Max Borsche ◽  
Dirk Reichel ◽  
Anja Fellbrich ◽  
Anne S. Lixenfeld ◽  
Johann Rahmöller ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Cognitive Impairment ◽  
Female Patient ◽  
Acute Phase ◽  
Neuropsychological Testing ◽  
Important Challenge ◽  
Central Nervous System Invasion

AbstractNeurological long-term sequelae are increasingly considered an important challenge in the recent COVID-19 pandemic. However, most evidence for neurological symptoms after SARS-CoV-2 infection and central nervous system invasion of the virus stems from individuals severely affected in the acute phase of the disease. Here, we report long-lasting cognitive impairment along with persistent cerebrospinal fluid anti-SARS-CoV-2 antibodies in a female patient with unremarkable standard examination 6 months after mild COVID-19, supporting the implementation of neuropsychological testing and specific cerebrospinal fluid investigation also in patients with a relatively mild acute disease phase.

Hippocampal glutamine synthetase: insensitivity to glucocorticoids and stress

1990 ◽  
Vol 258 (5) ◽  
pp. E894-E897 ◽  
Author(s):  
G. C. Tombaugh ◽  
R. M. Sapolsky
Keyword(s):  
Skeletal Muscle ◽  
Central Nervous System ◽  
Nervous System ◽  
Glutamine Synthetase ◽  
Glutamate Metabolism ◽  
Glutamatergic Synapses ◽  
Adult Rats ◽  
Glucocorticoid Induction ◽  
The Central Nervous System ◽  
The Brain

Glucocorticoids enhance the neurotoxic potential of several insults to the rat hippocampus that involve overactivation of glutamatergic synapses. These hormones also stimulate the synthesis of glutamine synthetase (GS) in peripheral tissue. Because this enzyme helps regulate glutamate metabolism in the central nervous system, glucocorticoid induction of GS in the brain may underlie the observed synergy. We have measured GS activity in the hippocampus and skeletal muscle (plantaris) of adult rats after bilateral adrenalectomy (ADX), corticosterone (Cort) replacement, or stress. No significant changes in GS were observed in hippocampal tissue, whereas muscle GS was significantly elevated after Cort treatment or stress and was reduced after ADX. These results suggest that Cort-induced shifts in GS activity probably do not explain Cort neurotoxicity, although the stress-induced rise in muscle GS may be relevant to certain types of myopathy.

scholarly journals GENETIC DIAGNOSTICS AND CLINICAL FEATURES OF WILSON’S DISEASE IN CHILDREN

2020 ◽  
Vol 2 ◽  
pp. 3-9
Author(s):  
Ivanna Haiboniuk ◽  
Marta Dats-Opoka ◽  
Halyna Makukh ◽  
Yaryna Boyko ◽  
Igor Kiselyk
Keyword(s):  
Nervous System ◽  
Genetic Analysis ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Wilson's Disease ◽  
Hereditary Diseases ◽  
Genetic Diagnostics ◽  
Atp7b Gene ◽  
Hepatobiliary System ◽  
Child Age

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary diseases, well subjected to the therapy. The disease is manifested in the early age, but its clinical course in children is symptomless that essentially complicates diagnostics. A single reliable method is genetic analysis for revealing mutations in ATP7B gene. The aim of the work was to analyze clinical manifestations and course of Wilson’s disease cases, genetically verified in children by detecting mutations of ATP7B gene. The research group included children of 6-17 years old with different injury degrees of the hepatobiliary system. According to results of the molecular-genetic analysis, the most spread allele variant of ATP7B gene (H1069Q) in Europe was confirmed in 10 patients of child age, including 4 cases of homozygosity. In 10 cases of the confirmed diagnosis of Wilson’s disease in child age in 100% (in all 10) of persons, a clinical manifestation was characterized by disorders from the hepatobiliary system, and only in 1 (10 %) – changes from the nervous system. At raising the level of transaminase in children, even at the normal bilirubin level and negative tests for viral hepatitis, it is recommended to carry out genetic testing for Wilson’s disease

scholarly journals Dying to Fall Asleep

2019 ◽  
pp. 724-742
Author(s):  
Jessica Vensel Rundo ◽  
Hillor Mehta ◽  
Reena Mehra
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Genetic Analysis ◽  
Genetic Disease ◽  
Prion Proteins ◽  
Amyloid Plaques ◽  
Definitive Diagnosis ◽  
Common Features ◽  
The Central Nervous System ◽  
Autonomic Hyperactivity

Fatal familial insomnia (FFI) is a rare autosomal dominant genetic disease characterized by progressive insomnia, autonomic hyperactivity, memory deficits, hallucinations, and myoclonus. Unlike its name, insomnia is not the most common initial presentation in patients with FFI. More common features like autonomic hyperactivity (hypertension and tachycardia) are often missed, delaying the diagnosis of FFI. Genetic analysis of FFI shows a D178N-129M mutation that results in generation of insoluble proteins (prion proteins) that aggregate to form amyloid plaques, leading to deterioration of the central nervous system, particularly in the hypothalamus. This case illustrates the difficulty in determining a definitive diagnosis in patients with FFI. Unfortunately, no treatment or cure is available for FFI. The disease is fatal in all the patients.

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