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Peter D Szigetvari, Gopinath Muruganandam, Juha P Kallio, Erik I Hallin, Agnete Fossbakk, Remy Loris, Inari Kursula, Lisbeth B Møller, Per M Knappskog, Petri Kursula, Jan Haavik
Tyrosine hydroxylase (TH) is a multi-domain, homo-oligomeric enzyme that catalyses the rate-limiting step of catecholamine neurotransmitter biosynthesis. Missense variants of human TH are associated with a recessive neurometabolic disease with low levels of brain dopamine and noradrenaline, resulting in a variable clinical picture, from progressive brain encephalopathy to adolescent onset DOPA-responsive dystonia (DRD). We expressed isoform 1 of human TH (hTH1) and its dystonia-associated missense variants in E...
November 9, 2018: Journal of Neurochemistry
Oun Al-Iedani, Jameen Arm, Karen Ribbons, Rodney Lea, Jeannette Lechner-Scott, Saadallah Ramadan
PURPOSE: This study was designed to evaluate the diurnal stability and long-term repeatability and reliability of one-dimensional (1D) hydrogen magnetic resonance spectroscopy (1H-MRS) in vitro and in vivo at 3 T. MATERIAL AND METHOD: A standard brain phantom was used for in vitro study. In vivo diurnal evaluation involved ten healthy subjects, while repeatability study involved six subjects. MRS was acquired from posterior cingulate gyrus (PCG), and processed with LCModel...
November 2018: European Journal of Radiology
Karin Terburgh, Zander Lindeque, Shayne Mason, Francois van der Westhuizen, Roan Louw
Leigh syndrome is one of the most common childhood-onset neurometabolic disorders resulting from a primary oxidative phosphorylation dysfunction and affecting mostly brain tissues. Ndufs4-/- mice have been widely used to study the neurological responses in this syndrome, however the reason why these animals do not display strong muscle involvement remains elusive. We combined biochemical strategies and multi-platform metabolomics to gain insight into the metabolism of both glycolytic (white quadriceps) and oxidative (soleus) skeletal muscles from Ndufs4-/- mice...
October 31, 2018: Biochimica et biophysica acta. Molecular basis of disease
Richard Kovács, Zoltan Gerevich, Alon Friedman, Jakub Otáhal, Ofer Prager, Siegrun Gabriel, Nikolaus Berndt
Epilepsy is characterized by the regular occurrence of seizures, which follow a stereotypical sequence of alterations in the electroencephalogram. Seizures are typically a self limiting phenomenon, concluding finally in the cessation of hypersynchronous activity and followed by a state of decreased neuronal excitability which might underlie the cognitive and psychological symptoms the patients experience in the wake of seizures. Many efforts have been devoted to understand how seizures spontaneously stop in hope to exploit this knowledge in anticonvulsant or neuroprotective therapies...
2018: Frontiers in Cellular Neuroscience
Diego Alfonso López Mora, Frederic Sampedro, Valle Camacho, Alejandro Fernández, Francisco Fuentes, Joan Duch, Jesús Pérez-Perez, Saül Martínez-Horta, Juan Marín-Lahoz, Anna Domènech, Albert Flotats, Montserrat Estorch, Jaime Kulisevsky, Ignasi Carrió
OBJECTIVE: Normalization to an appropriate reference region in F-FDG PET imaging may enhance diagnostic performance in Huntington disease (HD). We aimed to identify stable brain areas that could be used to model neurometabolic degeneration in HD correlating imaging (SUVrvalues at the basal ganglia [BBGG]) and clinical parameters (disease burden score [DBS]). MATERIALS AND METHODS: We performed brain F-FDG PET/CT in 38 manifest HD patients (meanage ± SD, 54 ± 14...
October 15, 2018: Clinical Nuclear Medicine
Desirèe Padilha Marchetti, Luiza Steffens, Carlos E Jacques, Gilian B Guerreiro, Caroline P Mescka, Marion Deon, Daniella M de Coelho, Dinara J Moura, Alice G Viario, Fernanda Poletto, Adriana S Coitinho, Laura B Jardim, Carmen R Vargas
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurometabolic disorder caused by disfunction of the ABCD1 gene, which encodes a peroxisomal protein responsible for the transport of the very long-chain fatty acids from the cytosol into the peroxisome, to undergo β-oxidation. The mainly accumulated saturated fatty acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0) in tissues and body fluids. This peroxisomal disorder occurs in at least 1 out of 20,000 births. Considering that pathophysiology of this disease is not well characterized yet, and glial cells are widely used in studies of protective mechanisms against neuronal oxidative stress, we investigated oxidative damages and inflammatory effects of vesicles containing lecithin and C26:0, as well as the protection conferred by N-acetyl-L-cysteine (NAC), trolox (TRO), and rosuvastatin (RSV) was assessed...
November 2018: Cellular and Molecular Neurobiology
Paula M Herrera, Alberto Vélez Van Meerbeke, Olivier Bonnot
Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and therapeutic challenge. The aim of this article is to describe seven treatable neurometabolic disorders that should be taken into account in the psychiatric consultation as they manifest with psychiatric symptoms that mask the organic origin of the disorder. Homocysteine metabolism and urea cycle disorders, Wilson's disease, Niemann-Pick disease Type C, acute porphyria and cerebrotendinous xanthomatosis are described...
October 2018: Revista Colombiana de Psiquiatría
Soumya Sivaraman, Nina V Kraguljac, David M White, Charity J Morgan, Sara S Gonzales, Adrienne C Lahti
Schizophrenia is a chronic, often progressive, disorder. Understanding the underlying neurobiology present in the early stages of the illness is as a pivotal step in designing targeted interventions aimed at arresting disease progression. The aim of our study was to examine neurometabolic changes in the dopamine rich associative striatum in medication-naïve first episode psychosis (FEP). We quantified neurometabolites in 14 FEP and 18 healthy controls (HC) matched on key demographic characteristics. Spectra from the voxel in the left associative striatum were acquired using a PRESS sequence (TR/TE = 2000/80 ms; 512 averages)...
November 30, 2018: Psychiatry research. Neuroimaging
Chi-Ren Tsai, Hsiu-Fen Lee, Ching-Shiang Chi, Ming-Te Yang, Chia-Chi Hsu
Aromatic L-amino acid decarboxylase deficiency (AADCD), attributed to mutations in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disease resulting from a defect in the biosynthesis of dopamine and serotonin. The DDC c.714+4A>T mutation is the most prevalent mutation among patients with AADCD, and is also a founder mutation among Taiwanese patients. In this study, the molecular consequences and function of this mutation were examined in AADCD patient-derived lymphoblastoid cells. We identified novel DDC mRNA isoforms spliced with a new exon (exon 6a) in normal and c...
September 27, 2018: Human Mutation
Young-Chang Arai, Yukiko Shiro, Yasushi Funak, Kunio Kasugaii, Yusuke Omichi, Hiroki Sakurai, Takako Matsubara, Masayuki Inoue, Kazuhiro Shimo, Hironori Saisu, Tatsunori Ikemoto, Keiko Owari, Makoto Nishihara, Takahiro Ushida
Background: Bacteria can influence a variety of gut functions. Some studies showed that stool consistency and constipation were associated with gut microbiome (GM) composition, and enterotype, dysbiosis. Growing evidence indicates the significant role of GM in the homeostatic function of the host body. The GM may regulate multiple neurochemical and neurometabolic pathways. Chronicity of the pain is actively modulated at the molecular to the network level by means of several neurotransmitters...
August 2018: Anesthesiology and Pain Medicine
Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng
BACKGROUND: L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations of 2-hydroxyglutarate (2-HG) in the plasma, urine and cerebrospinal fluid. The causative gene of L-2-HGA is L-2-hydroxyglutarate dehydrogenase gene (L2HGDH), which consists of 10 exons. CASE PRESENTATION: We presented a rare patient primary diagnosis of L-2-HGA based on the clinical symptoms, magnetic resonance imaging (MRI), and gas chromatography-mass spectrometry (GC-MS) results...
September 14, 2018: BMC Medical Genetics
Vilma Maria Junges, Vera Elizabeth Closs, Guilherme Marcos Nogueira, Maria Gabriela Valle Gottlieb
The role of diet and gut microbiota in the pathophysiology of neurodegenerative diseases, such as Alzheimer's, has recently come under intense investigation. Studies suggest that human gut microbiota may contribute to the modulation of several neurochemical and neurometabolic pathways, through complex systems that interact and interconnect with the central nervous system. The brain and intestine form a bidirectional communication axis, or vice versa, they form an axis through bi-directional communication between endocrine and complex immune systems, involving neurotransmitters and hormones...
September 4, 2018: Current Alzheimer Research
Kayla Ryan, Krzysztof Wawrzyn, Joseph S Gati, Blaine A Chronik, Dickson Wong, Neil Duggal, Robert Bartha
Transcranial direct current stimulation (tDCS) is a form of non-invasive brain stimulation that may modulate cortical excitability, metabolite concentration, and human behaviour. The supplementary motor area (SMA) has been largely ignored as a potential target for tDCS neurorehabilitation but is an important region in motor compensation after brain injury with strong efferent connections to the primary motor cortex (M1). The objective of this work was to measure tissue metabolite changes in the human motor cortex immediately following tDCS...
2018: PloS One
Sonia Gandhi, Sunil Koundal, Tanzeer Kaur, Subash Khushu, Ajay Kumar Singh
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at
August 25, 2018: Brain Research
Àlex Bayés
Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders...
August 21, 2018: Journal of Inherited Metabolic Disease
Marcio Gerhardt Soeiro-de-Souza, Maria Concepcion Garcia Otaduy, Rodrigo Machado-Vieira, Ricardo Alberto Moreno, Fabiano G Nery, Claudia Leite, Beny Lafer
OBJECTIVE: In the treatment of Bipolar disorder (BD), achieving euthymia is highly complex and usually requires a combination of mood stabilizers. The mechanism of action in stabilizing mood has not been fully elucidated, but alterations in N-Acetylaspartate (NAA), Myo-Inositol (mI) and Choline (Cho) have been implicated. Proton magnetic resonance spectroscopy (1 H-MRS) is the gold standard technique for measuring brain NAA, Cho and mI in vivo. The objective of this study was to investigate the association of lithium use in BD type I and brain levels of NAA, mI and Cho in the (anterior cingulate cortex) ACC...
December 1, 2018: Journal of Affective Disorders
Gilian Guerreiro, Jéssica Faverzani, Carlos Eduardo Diaz Jacques, Desirèe P Marchetti, Angela Sitta, Daniella de Moura Coelho, Aline Kayser, Fernando Kok, Larissa Athayde, Vanusa Manfredini, Moacir Wajner, Carmen Regla Vargas
The deficiency of the enzyme glutaryl-CoA dehydrogenase, known as glutaric acidemia type I (GA-I), leads to the accumulation of glutaric acid (GA) and glutarilcarnitine (C5DC) in the tissues and body fluids, unleashing important neurotoxic effects. l-carnitine (l-car) is recommended for the treatment of GA-I, aiming to induce the excretion of toxic metabolites. l-car has also demonstrated an important role as antioxidant and anti-inflammatory in some neurometabolic diseases. This study evaluated GA-I patients at diagnosis moment and treated the oxidative damage to lipids, proteins, and the inflammatory profile, as well as in vivo and in vitro DNA damage, reactive nitrogen species (RNS), and antioxidant capacity, verifying if the actual treatment with l-car (100 mg kg-1  day-1 ) is able to protect the organism against these processes...
August 20, 2018: Journal of Cellular Biochemistry
Naila Ismayilova, Yael Hacohen, Andrew D MacKinnon, Frances Elmslie, Antonia Clarke
Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Zeren Barış, Figen Özçay, Lale Olcay, Serdar Ceylaner, Taner Sezer
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman-Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic deficiency, bone marrow dysfunction with increased risk for malignant transformation, and skeletal abnormalities. It should be included in differential diagnosis of patients with failure to thrive and unexplained neurodevelopmental delay with neutropenia...
September 2018: Journal of Pediatric Genetics
Julia Becker-Kettern, Nicole Paczia, Jean-François Conrotte, Chenchen Zhu, Oliver Fiehn, Paul P Jung, Lars M Steinmetz, Carole L Linster
NADHX and NADPHX are hydrated and redox inactive forms of the NADH and NADPH cofactors, known to inhibit several dehydrogenases in vitro. A metabolite repair system that is conserved in all domains of life and that comprises the two enzymes NAD(P)HX dehydratase and NAD(P)HX epimerase, allows reconversion of both the S- and R-epimers of NADHX and NADPHX to the normal cofactors. An inherited deficiency in this system has recently been shown to cause severe neurometabolic disease in children. Although evidence for the presence of NAD(P)HX has been obtained in plant and human cells, little is known about the mechanism of formation of these derivatives in vivo and their potential effects on cell metabolism...
August 11, 2018: FEBS Journal
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