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https://www.readbyqxmd.com/read/28331572/environmental-risk-factors-for-autism-an-evidence-based-review-of-systematic-reviews-and-meta-analyses
#1
REVIEW
Amirhossein Modabbernia, Eva Velthorst, Abraham Reichenberg
BACKGROUND: According to recent evidence, up to 40-50% of variance in autism spectrum disorder (ASD) liability might be determined by environmental factors. In the present paper, we conducted a review of systematic reviews and meta-analyses of environmental risk factors for ASD. We assessed each review for quality of evidence and provided a brief overview of putative mechanisms of environmental risk factors for ASD. FINDINGS: Current evidence suggests that several environmental factors including vaccination, maternal smoking, thimerosal exposure, and most likely assisted reproductive technologies are unrelated to risk of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28293733/type-a-monoamine-oxidase-and-serotonin-are-coordinately-involved-in-depressive-disorders-from-neurotransmitter-imbalance-to-impaired-neurogenesis
#2
REVIEW
Makoto Naoi, Wakako Maruyama, Masayo Shamoto-Nagai
Type A monoamine oxidase (MAOA) catabolizes monoamine transmitters, serotonin, norepinephrine and dopamine, and plays a major role in the onset, progression and therapy of neuropsychiatric disorders. In depressive disorders, increase in MAOA expression and decrease in brain levels of serotonin and norepinephrine are proposed as the major pathogenic factors. The functional polymorphism of MAOA gene and genes in serotonin signal pathway are associated with depression. This review presents recent advance in studies on the role of MAOA in major depressive disorder and related emotional disorders...
March 14, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#3
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284394/impaired-neurotransmission-in-early-treated-phenylketonuria-patients
#4
María Julieta González, Rosa Gassió, Rafael Artuch, Jaume Campistol
Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis. These deficits are related to executive dysfunctions and social-emotional problems, respectively, in early treated patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284389/biochemical-analyses-of-cerebrospinal-fluid-for-the-diagnosis-of-neurometabolic-conditions-what-can-we-expect
#5
Marta Batllori, Marta Molero-Luis, Mercedes Casado, Cristina Sierra, Rafael Artuch, Aida Ormazabal
In this article, we review the state-of-the-art analysis of different biomarkers in the cerebrospinal fluid for the diagnosis of genetically conditioned, rare, neurometabolic diseases, including glucose transport defects, neurotransmitter (dopamine, serotonin, and gamma-aminobutyric acid) and pterin deficiencies, and vitamin defects (folate, vitamin B6, and thiamine) that affect the brain. The analysis of several key metabolites are detailed, which thus highlights the preanalytical and analytical factors that should be cautiously controlled to avoid misdiagnosis; moreover, these factors may facilitate an adequate interpretation of the biochemical profiles in the context of severe neuropediatric disorders...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283561/alteration-of-neuronal-excitability-and-short-term-synaptic-plasticity-in-the-prefrontal-cortex-of-a-mouse-model-of-mental-illness
#6
Gregg W Crabtree, Ziyi Sun, Mirna Kvajo, Jantine Ac Broek, Karine Fénelon, Heather McKellar, Lan Xiao, Bin Xu, Sabine Bahn, James M O'Donnell, Joseph A Gogos
Employing a genetic mouse model that faithfully recapitulates a DISC1 genetic alteration strongly associated with schizophrenia and other psychiatric disorders, we examined the impact of this mutation within the prefrontal cortex. Although cortical layering, cytoarchitecture and proteome were found to be largely unaffected, electrophysiological examination of the mPFC revealed both neuronal hyper-excitability and alterations in short-term synaptic plasticity consistent with enhanced neurotransmitter release...
March 10, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28236206/glutamate-t-cells-and-multiple-sclerosis
#7
REVIEW
Mia Levite
Glutamate is the major excitatory neurotransmitter in the nervous system, where it induces multiple beneficial and essential effects. Yet, excess glutamate, evident in a kaleidoscope of acute and chronic pathologies, is absolutely catastrophic, since it induces excitotoxicity and massive loss of brain function. Both the beneficial and the detrimental effects of glutamate are mediated by a large family of glutamate receptors (GluRs): the ionotropic glutamate receptors (iGluRs) and the metabotropic glutamate receptors (mGluRs), expressed by most/all cells of the nervous system, and also by many non-neural cells in various peripheral organs and tissues...
February 24, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28202787/dysregulated-glycine-signaling-contributes-to-increased-impulsivity-during-protracted-alcohol-abstinence
#8
Cristina Irimia, Matthew W Buczynski, Luis A Natividad, Sarah A Laredo, Nathaniel Avalos, Loren H Parsons
Persons with alcoholism who are abstinent exhibit persistent impairments in the capacity for response inhibition, and this form of impulsivity is significantly associated with heightened relapse risk. Brain-imaging studies implicate aberrant prefrontal cortical function in this behavioral pathology, although the underlying mechanisms are not understood. Here we present evidence that deficient activation of glycine and serine release in the ventral medial prefrontal cortex (vmPFC) contributes to increased motor impulsivity during protracted abstinence from long-term alcohol exposure...
February 15, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28192174/does-genetic-bdnf-deficiency-in-rats-interact-with-neurotransmitter-control-of-prepulse-inhibition-implications-for-schizophrenia
#9
Maarten van den Buuse, Davina Biel, Kathrin Radscheit
Several studies have suggested a role of BDNF in the development of schizophrenia. For example, post-mortem studies have shown significantly reduced levels of BDNF protein expression in the brain of schizophrenia patients. We investigated the relationship between reduced levels of BDNF in the brain and the regulation of prepulse inhibition (PPI), a behavioral endophenotype of schizophrenia. We used BDNF heterozygous mutant rats which display a 50% decrease of mature BDNF protein levels. Previously, we observed normal baseline PPI and responses to the dopamine D1/D2 receptor agonist, apomorphine, in these rats...
April 3, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28143737/near-complete-correction-of-profound-metabolomic-impairments-corresponding-to-functional-benefit-in-mps-iiib-mice-after-iv-raav9-hnaglu-gene-delivery
#10
Haiyan Fu, Aaron S Meadows, Tierra Ware, Robert P Mohney, Douglas M McCarty
Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disease with complex CNS and somatic pathology due to a deficiency in α-N-acetylglucosaminidase (NAGLU). Using global metabolic profiling by mass spectrometry targeting 361 metabolites, this study detected significant decreases in 225 and increases in six metabolites in serum samples from 7-month-old MPS IIIB mice, compared to wild-type (WT) mice. The metabolic disturbances involve virtually all major pathways of amino acid, peptide (58/102), carbohydrate (18/28), lipid (111/139), nucleotide (12/24), energy (2/9), vitamin and cofactor (11/16), and xenobiotic (11/28) metabolism...
March 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28132689/biallelic-mutations-in-dnajc12-cause-hyperphenylalaninemia-dystonia-and-intellectual-disability
#11
Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28119166/in-vitro-toxicological-evaluation-of-ncs-382-a-high-affinity-antagonist-of-%C3%AE-hydroxybutyrate-ghb-binding
#12
K R Vogel, G R Ainslie, J-B Roullet, A McConnell, K M Gibson
γ-Hydroxybutyric acid (GHB), a minor metabolite of the inhibitory neurotransmitter GABA, can accumulate to significant concentrations in the heritable disorder of GABA degradation, succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD). Moreover, GHB may be employed in therapeutic settings (treatment of narcolepsy), as well as instances of illicit activity, including acquaintance sexual assault and the induction of euphoria. High-affinity binding sites for GHB in the brain have been identified, although the absolute identity of these receptors remains unclear...
January 22, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#13
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28100251/consensus-guideline-for-the-diagnosis-and-treatment-of-aromatic-l-amino-acid-decarboxylase-aadc-deficiency
#14
REVIEW
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology...
January 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28090374/neurophysiological-measures-and-alcohol-use-disorder-aud-hypothesizing-links-between-clinical-severity-index-and-molecular-neurobiological-patterns
#15
Mario Vitali, Carmen Napolitano, Marlene Oscar Berman, Simona Flamminii Minuto, Gemma Battagliese, Maria Luisa Attilia, Eric R Braverman, Marina Romeo, Kenneth Blum, Mauro Ceccanti
BACKGROUND: In 1987, Cloninger proposed a clinical description and classification of different personality traits genetically defined and independent from each other. Moreover, he elaborated a specific test the TCI to investigate these traits/states. The study of craving in Alcohol Use Disorder (AUD) assumed a greater significance, since ever more data seems to suggest a direct correlation between high levels of craving and a higher risk of relapse in alcoholics. Thus, our study aim is to explore the possible correlations among TCI linked molecular neurobiological pattern (s), craving and alcohol addiction severity measures in a sample of Italian alcoholics...
April 2016: Journal of Addiction Research & Therapy
https://www.readbyqxmd.com/read/28087137/nos-interacting-protein-nosip-is-increased-in-the-colon-of-patients-with-hirschsprung-s-disease
#16
Anne-Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Voltage-dependent K(+) channels (Kv channels) participate in electrical rhythmicity and smooth muscle responses and are regulated by excitatory and inhibitory neurotransmitters. Kv channels also participate in the interstitial cell of Cajal (ICC) and smooth muscle cell (SMC) responses to neural inputs. The Kv family consists of 12 subfamilies, Kv1-Kv12, with five members of the Kv7 family identified to date: Kv7.1-Kv7.5. A recent study identified the potassium channel Kv7.5 as having a role in the excitability of ICC-IM in the mouse colon...
January 3, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28081177/first-behavioural-characterisation-of-a-knockout-mouse-model-for-the-transforming-growth-factor-tgf-%C3%AE-superfamily-cytokine-mic-1-gdf15
#17
Jac Kee Low, Ananthan Ambikairajah, Kani Shang, David A Brown, Vicky W W Tsai, Samuel N Breit, Tim Karl
Macrophage inhibitory cytokine-1 (MIC-1), also known as growth differentiation factor 15 (GDF15), is a stress response cytokine. MIC-1/GDF15 is secreted into the cerebrospinal fluid and increased levels of MIC-1/GDF15 are associated with a variety of diseases including cognitive decline. Furthermore, Mic-1/Gdf15 knockout mice (Mic-1 KO) weigh more, have increased adiposity, associated with increased spontaneous food intake, and exhibit reduced basal energy expenditure and physical activity. The current study was designed to comprehensively determine the role of MIC-1/GDF15 on behavioural domains of male and female knockout mice including locomotion, exploration, anxiety, cognition, social behaviours, and sensorimotor gating...
2017: PloS One
https://www.readbyqxmd.com/read/28071723/hcn1-channels-reduce-the-rate-of-exocytosis-from-a-subset-of-cortical-synaptic-terminals
#18
Zhuo Huang, Gengyu Li, Carolina Aguado, Rafael Lujan, Mala M Shah
The hyperpolarization-activated cyclic nucleotide-gated (HCN1) channels are predominantly located in pyramidal cell dendrites within the cortex. Recent evidence suggests these channels also exist pre-synaptically in a subset of synaptic terminals within the mature entorhinal cortex (EC). Inhibition of pre-synaptic HCN channels enhances miniature excitatory post-synaptic currents (mEPSCs) onto EC layer III pyramidal neurons, suggesting that these channels decrease the release of the neurotransmitter, glutamate...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28069295/short-term-memory-of-caenorhabditis-elegans-against-bacterial-pathogens-involves-creb-transcription-factor
#19
Udayakumar Prithika, Ramaraj Vikneswari, Krishnaswamy Balamurugan
One of the key issues pertaining to the control of memory is to respond to a consistently changing environment or microbial niche present in it. Human cyclic AMP response element binding protein (CREB) transcription factor which plays a crucial role in memory has a homolog in C. elegans, crh-1. crh-1 appears to influence memory processes to certain extent by habituation of the host to a particular environment. The discrimination between the pathogen and a non-pathogen is essential for C. elegans in a microbial niche which determines its survival...
December 30, 2016: Immunobiology
https://www.readbyqxmd.com/read/28028724/correlation-study-of-basic-chinese-medicine-syndromes-and-neurotransmitter-levels-in-patients-with-primary-insomnia
#20
Rong Zhang, Yun-Shuang Yang, Xiao-Chen Liu, Jin-Liang Yang, Yan-Hui Li, Peng-Zhan Shi, Chao Yang, Bin Qu
OBJECTIVE: To investigate the correlation between basic Chinese medicine (CM) syndromes (deficiency and excess syndromes) and intracranial neurotransmitter levels in primary insomnia (PI), to provide objective indicators and syndrome-based medical evidence for the differentiation of PI. METHODS: A total of 158 patients with PI were recruited for CM syndrome differentiation. Another 30 healthy people without sleep disorders were selected as control group. An encephalofluctuograph analyzer was used to test the levels of intracranial neurotransmitters, including γ- aminobutyric acid (GABA), glutamate (Glu), 5-hydroxytryptamine (5-HT), dopamine (DA), etc...
December 27, 2016: Chinese Journal of Integrative Medicine
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