keyword
MENU ▼
Read by QxMD icon Read
search

GCH1

keyword
https://www.readbyqxmd.com/read/28283962/update-on-the-genetics-of-dystonia
#1
REVIEW
Katja Lohmann, Christine Klein
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
March 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28128438/a-key-role-for-tetrahydrobiopterin-dependent-endothelial-nos-regulation-in-vascular-resistance-arteries-studies-in-endothelial-cell-tetrahydrobiopterin-deficient-mice
#2
Surawee Chuaiphichai, Mark J Crabtree, Eileen McNeill, Ashley B Hale, Lucy Trelfa, Keith M Channon, Gillian Douglas
BACKGROUND AND PURPOSE: The cofactor tetrahydrobiopterin (BH4) is a critical regulator of endothelial NOS (eNOS) function, eNOS-derived NO and reactive oxygen species (ROS) signalling in vascular physiology. To determine the physiological requirement for de-novo endothelial cell BH4 synthesis in vasomotor function in resistance arteries, we have generated a mouse model with endothelial cell-specific deletion of Gch1, encoding GTP cyclohydrolase 1 (GTPCH), an essential enzyme for BH4 biosynthesis, and evaluated BH4-dependent eNOS regulation, eNOS-derived NO and ROS generation...
January 27, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#3
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27956669/genetic-polymorphisms-and-their-association-with-the-prevalence-and-severity-of-chronic-postsurgical-pain-a-systematic-review
#4
D M N Hoofwijk, R R I van Reij, B P Rutten, G Kenis, W F Buhre, E A Joosten
BACKGROUND: Although several patient characteristic, clinical, and psychological risk factors for chronic postsurgical pain (CPSP) have been identified, genetic variants including single nucleotide polymorphisms have also become of interest as potential risk factors for the development of CPSP. The aim of this review is to summarize the current evidence on genetic polymorphisms associated with the prevalence and severity of CPSP in adult patients. METHODS: A systematic review of the literature was performed, and additional literature was obtained by reference tracking...
December 2016: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/27899115/characterizing-the-impact-of-sustained-sulfadoxine-pyrimethamine-use-upon-the-plasmodium-falciparum-population-in-malawi
#5
Matt Ravenhall, Ernest Diez Benavente, Mwapatsa Mipando, Anja T R Jensen, Colin J Sutherland, Cally Roper, Nuno Sepúlveda, Dominic P Kwiatkowski, Jacqui Montgomery, Kamija S Phiri, Anja Terlouw, Alister Craig, Susana Campino, Harold Ocholla, Taane G Clark
BACKGROUND: Malawi experienced prolonged use of sulfadoxine/pyrimethamine (SP) as the front-line anti-malarial drug, with early replacement of chloroquine and delayed introduction of artemisinin-based combination therapy. Extended use of SP, and its continued application in pregnancy is impacting the genomic variation of the Plasmodium falciparum population. METHODS: Whole genome sequence data of P. falciparum isolates covering 2 years of transmission within Malawi, alongside global datasets, were used...
November 29, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27871051/aging-modifies-the-effect-of-gch1-rs11158026-on-dat-uptake-and-parkinson-s-disease-clinical-severity
#6
Joseph Webb, Auriel A Willette
Novel single nucleotide polymorphisms within Parkinson's disease (PD) can predict disease risk, but their influence on clinical, cognitive, and neurobiological indices remains unexplored. We investigated differences between functional polymorphisms at RS11158026 coding for guanosine triphosphate cyclohydrolase-1 (GCH1), an essential enzyme for dopamine production in nigrostriatal cells. Among newly diagnosed, untreated PD subjects and age-matched controls from the Parkinson's Progression Markers Initiative, T allele carriers showed higher PD risk (odds ratio = 1...
February 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/27826622/upregulation-of-auf1-is-involved-in-the-proliferation-of-esophageal-squamous-cell-carcinoma-through-gch1
#7
Yi Gao, Wenjie Wang, Jinming Cao, Fangjun Wang, Yangyang Geng, Jianping Cao, Xiaohui Xu, Jundong Zhou, Pengfei Liu, Shuyu Zhang
Esophageal squamous cell carcinoma (ESCC) has one of the highest mortality rates worldwide. AU-rich element RNA-binding factor 1 (AUF1) is an established RNA-binding protein. AUF1 influences the process of development, apoptosis and tumorigenesis via interacting with adenylate-uridylate rich elements (AREs) bearing mRNAs. However, the clinical relevance of AUF1 and its biological function in ESCC progression have not been reported. In the present study, we first investigated the expression of AUF1 in the ESCC tissue samles and normal samples...
November 2016: International Journal of Oncology
https://www.readbyqxmd.com/read/27765794/inhibition-of-aberrant-microrna-133a-expression-in-endothelial-cells-by-statin-prevents-endothelial-dysfunction-by-targeting-gtp-cyclohydrolase-1-in-vivo
#8
Peng Li, Ya-Ling Yin, Tao Guo, Xue-Ying Sun, Hui Ma, Mo-Li Zhu, Fan-Rong Zhao, Ping Xu, Yuan Chen, Guang-Rui Wan, Fan Jiang, Qi-Sheng Peng, Chao Liu, Li-Ying Liu, Shuang-Xi Wang
BACKGROUND: GTP cyclohydrolase 1 (GCH1) deficiency is critical for endothelial nitric oxide synthase uncoupling in endothelial dysfunction. MicroRNAs (miRs) are a class of regulatory RNAs that negatively regulate gene expression. We investigated whether statins prevent endothelial dysfunction via miR-dependent GCH1 upregulation. METHODS: Endothelial function was assessed by measuring acetylcholine-induced vasorelaxation in the organ chamber. MiR-133a expression was assessed by quantitative reverse transcription polymerase chain reaction and fluorescence in situ hybridization...
November 29, 2016: Circulation
https://www.readbyqxmd.com/read/27731537/transcranial-sonography-in-dopa-responsive-dystonia
#9
M Svetel, A Tomić, M Mijajlović, V Dobričić, I Novaković, T Pekmezović, L Brajković, V S Kostić
BACKGROUND AND PURPOSE: Mutations in the GCH1 gene, encoding GTP cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (DRD), characterized predominantly by limb dystonia, although parkinsonian features may also be present. It has been suggested that DRD is a neurochemical rather than neurodegenerative disorder. METHODS: Transcranial brain sonography, which might be a risk marker for nigral injury, was obtained from 141 subjects divided into four groups: (i) 11 patients with genetically confirmed DRD; (ii) 55 consecutive patients with Parkinson's disease (PD); (iii) 30 patients diagnosed as isolated adult-onset focal dystonia; and (iv) 45 healthy controls (HCs)...
January 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27720787/associations-between-neurotransmitter-genes-and-fatigue-and-energy-levels-in-women-after-breast-cancer-surgery
#10
Jasmine Eshragh, Anand Dhruva, Steven M Paul, Bruce A Cooper, Judy Mastick, Deborah Hamolsky, Jon D Levine, Christine Miaskowski, Kord M Kober
CONTEXT: Fatigue is a common problem in oncology patients. Less is known about decrements in energy levels and the mechanisms that underlie both fatigue and energy. OBJECTIVES: In patients with breast cancer, variations in neurotransmitter genes between lower and higher fatigue latent classes and between the higher and lower energy latent classes were evaluated. METHODS: Patients completed assessments before and monthly for six months after surgery...
January 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/27667361/dopa-responsive-dystonia-or-early-onset-parkinson-disease-genotype-phenotype-correlation
#11
Anna Potulska-Chromik, Dorota Hoffman-Zacharska, Małgorzata Łukawska, Anna Kostera-Pruszczyk
OBJECTIVE: Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. The aim of this study was to analyze and compare genotype-phenotype correlation. MATERIAL/PARTICIPANTS: Four families with inter- and intrafamilial variability of progressive gait dysfunction due to lower limb dystonia occurring in childhood or adolescence were included in the analysis...
September 12, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27666935/clinical-exome-sequencing-in-early-onset-generalized-dystonia-and-large-scale-resequencing-follow-up
#12
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner, Joerg Mueller, Andres Ceballos-Baumann, Tim M Strom, Roberto Colombo, Werner Poewe, Bernhard Haslinger, Juliane Winkelmann
BACKGROUND: Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation. METHODS: Clinical whole-exome sequencing coupled with bioinformatics analysis and detailed phenotyping of mutation carriers was performed on 16 consecutive cases with genetically undefined early-onset generalized dystonia...
September 26, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27636225/an-expert-review-of-pharmacogenomics-of-sickle-cell-disease-therapeutics-not-yet-ready-for-global-precision-medicine
#13
Khuthala Mnika, Gift D Pule, Collet Dandara, Ambroise Wonkam
Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. Vaso-occlusive painful crises are associated with recurrent and long-term use of analgesics/opioids and hydroxyurea (HU) by people living with SCD. The present analysis offers a state-of-the-art expert review of the effectiveness of pharmacogenomics/genetics of pain management in SCD, with specific focus on HU and opioids...
October 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27619486/a-novel-tyrosine-hydroxylase-variant-in-a-group-of-chinese-patients-with-dopa-responsive-dystonia
#14
Ya-Ping Yan, Bo Zhang, Yan-Fang Mao, Zhang-Yu Guo, Jun Tian, Guo-Hua Zhao, Jia-Li Pu, Wei Luo, Zhi-Yuan Ouyang, Bao-Rong Zhang
Dopa-responsive dystonia (DRD) comprises a heterogeneous group of movement disorders. A limited number of studies of Chinese patients with DRD have been reported. In the present study, we investigated the clinical and genetic features of 12 Chinese DRD families. Point mutation analysis of the GTP-cyclohydrolase I (GCH1), tyrosine hydroxylase (TH) and sepiapterin reductase (SPR) genes was conducted by direct sequencing. In addition, multiplex ligation-dependent probe amplification targeting GCH1 and TH was performed in "mutation-free" patients...
October 5, 2016: International Journal of Neuroscience
https://www.readbyqxmd.com/read/27567459/paroxysmal-movement-disorders-an-update
#15
A Méneret, E Roze
Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined by attacks of cerebellar ataxia. They may be primary (familial or sporadic) or secondary to an underlying cause. They can be classified according to their phenomenology (kinesigenic, non-kinesigenic or exercise-induced) or their genetic cause. The main genes involved in primary paroxysmal movement disorders include PRRT2, PNKD, SLC2A1, ATP1A3, GCH1, PARK2, ADCY5, CACNA1A and KCNA1...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27491309/tyrosine-hydroxylase-th-its-cofactor-tetrahydrobiopterin-bh4-other-catecholamine-related-enzymes-and-their-human-genes-in-relation-to-the-drug-and-gene-therapies-of-parkinson-s-disease-pd-historical-overview-and-future-prospects
#16
Toshiharu Nagatsu, Ikuko Nagatsu
Tyrosine hydroxylase (TH), which was discovered at the National Institutes of Health (NIH) in 1964, is a tetrahydrobiopterin (BH4)-requiring monooxygenase that catalyzes the first and rate-limiting step in the biosynthesis of catecholamines (CAs), such as dopamine, noradrenaline, and adrenaline. Since deficiencies of dopamine and noradrenaline in the brain stem, caused by neurodegeneration of dopamine and noradrenaline neurons, are mainly related to non-motor and motor symptoms of Parkinson's disease (PD), we have studied human CA-synthesizing enzymes [TH; BH4-related enzymes, especially GTP-cyclohydrolase I (GCH1); aromatic L-amino acid decarboxylase (AADC); dopamine β-hydroxylase (DBH); and phenylethanolamine N-methyltransferase (PNMT)] and their genes in relation to PD in postmortem brains from PD patients, patients with CA-related genetic diseases, mice with genetically engineered CA neurons, and animal models of PD...
November 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27295516/cardiomyocyte-gtp-cyclohydrolase-1-protects-the-heart-against-diabetic-cardiomyopathy
#17
Hsiang-En Wu, Shelley L Baumgardt, Juan Fang, Mark Paterson, Yanan Liu, Jianhai Du, Yang Shi, Shigang Qiao, Zeljko J Bosnjak, David C Warltier, Judy R Kersten, Zhi-Dong Ge
Diabetic cardiomyopathy increases the risk of heart failure and death. At present, there are no effective approaches to preventing its development in the clinic. Here we report that reduction of cardiac GTP cyclohydrolase 1 (GCH1) degradation by genetic and pharmacological approaches protects the heart against diabetic cardiomyopathy. Diabetic cardiomyopathy was induced in C57BL/6 wild-type mice and transgenic mice with cardiomyocyte-specific overexpression of GCH1 with streptozotocin, and control animals were given citrate buffer...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27185167/low-frequency-of-gch1-and-th-mutations-in-parkinson-s-disease
#18
Aina Rengmark, Lasse Pihlstrøm, Jan Linder, Lars Forsgren, Mathias Toft
BACKGROUND: The causes of Parkinson's disease (PD) are unknown in the majority of patients. The GCH1 gene encodes GTP-cyclohydrolase I, an important enzyme in dopamine synthesis. Co-occurrence of dopa-responsive dystonia (DRD) and a PD phenotype has been reported in families with GCH1 mutations. Recently, rare coding variants in GCH1 were found to be enriched in PD patients, indicating a role for the enzyme in the neurodegenerative process. METHODS: To further elucidate the contribution of GCH1 mutations to sporadic PD, we examined its coding exons in a targeted deep sequencing study of 509 PD patients (mean age at onset 56...
August 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/26991507/novel-dystonia-genes-clues-on-disease-mechanisms-and-the-complexities-of-high-throughput-sequencing
#19
REVIEW
Aloysius Domingo, Roberto Erro, Katja Lohmann
Dystonia is a genetically heterogenous disease and a prototype disorder where next-generation sequencing has facilitated the identification of new pathogenic genes. This includes the first two genes linked to recessively inherited isolated dystonia, that is, HPCA (hippocalcin) and COL6A3 (collagen VI alpha 3). These genes are proposed to underlie cases of the so-called DYT2-like dystonia, while also reiterating two distinct pathways in dystonia pathogenesis. First, deficiency in HPCA function is thought to alter calcium homeostasis, a mechanism that has previously been forwarded for CACNA1A and ANO3...
April 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/26945673/biopsychosocial-influence-on-shoulder-pain-influence-of-genetic-and-psychological-combinations-on-twelve-month-postoperative-pain-and-disability-outcomes
#20
Steven Z George, Samuel S Wu, Margaret R Wallace, Michael W Moser, Thomas W Wright, Kevin W Farmer, Warren H Greenfield, Yunfeng Dai, Hua Li, Roger B Fillingim
OBJECTIVE: To identify novel combinations of genetic and psychological factors that predicted 12-month postoperative pain and disability outcomes following arthroscopic shoulder surgery. METHODS: A prospective presurgical cohort (n = 150) was recruited to complete validated psychological questionnaires and have their DNA collected from saliva. DNA was genotyped for a priori selected genes involved with pain modulation (ADRB2, OPRM1, AVPR1A, GCH1, and KCNS1) and inflammation (IL1B, TNF/LTA, and IL6)...
November 2016: Arthritis Care & Research
keyword
keyword
109871
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"