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Ruifang Wang, Nan Shen, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Yu Sun, Yanjie Fan, Lili Wang, Yu Wang, Zhuwen Gong, Huili Liu, Jianguo Wang, Hui Yan, Nenad Blau, Xuefan Gu, Yongguo Yu
BACKGROUND: Hyperphenylalaninemia (HPA) is an inherited metabolic disorder that is caused by a deficiency of phenylalanine hydroxylase (PAH) or tetrahydrobiopterin. The prevalence of HPA varies widely around the world. METHODS: A spectrum of HPA candidate genes in 1020 Chinese HPA patients was reported. Sanger sequencing, next generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA) and quantitative real-time PCR (qRT-PCR) were applied to precisely molecular diagnose HPA patients...
February 27, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Yi Ching Weng, Chun Chieh Wang, Yih Ru Wu
The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by GCH1 mutation on chromosome 14q22.1-q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa...
February 2018: Brain and Behavior
Marina Flotats-Bastardas, Eva Hebert, Miquel Raspall-Chaure, Francina Munell, Alfons Macaya, Katja Lohmann
No abstract text is available yet for this article.
February 22, 2018: Neuropediatrics
James D Clelland, Laura L Read, Jennifer Smeed, Catherine L Clelland
Tetrahydrobiopterin (BH4 ) is an essential cofactor for dopamine, serotonin and nitric oxide synthesis. Deficits of plasma total biopterin (a measure of BH4 ) have been described in schizophrenia and schizoaffective disorder. GCH1 encodes the first and rate-limiting enzyme in BH4 synthesis. Peripheral GCH1 expression is lower in first episode psychosis patients versus controls, and we hypothesized that a GCH1 promoter polymorphism associated with psychiatric illness, contributes to regulation of both GCH1 expression and BH4 levels...
February 8, 2018: Psychiatry Research
Arafat Nasser, Anette Torvin Møller, Vibe Hellmund, Sidsel Salling Thorborg, Cathrine Jespersgaard, Ole J Bjerrum, Erik Dupont, Gösta Nachman, Jens Lykkesfeldt, Troels Staehelin Jensen, Lisbeth Birk Møller
Human studies have demonstrated a correlation between non-coding polymorphisms of 'the pain protective' (PP) haplotype in the GCH1 gene that encodes for GTP cyclohydrolase I (GTPCH1) - which leads to reduced tetrahydrobiopterin (BH4) production in cell systems - and a diminished perception of experimental and clinical pain. Here we investigate whether heterozygous mutations in the GCH1 gene which lead to a profound BH4 reduction in patients with dopa-responsive dystonia (DRD) have any effect on pain sensitivity...
February 20, 2018: Pain
Jinqiu Wei, Yujiao Zhang, Zhan Li, Ximin Wang, Linlin Chen, Juanjuan Du, Jing Liu, Ju Liu, Yinglong Hou
BACKGROUND/AIMS: Cardiac autonomic nerve remodeling (ANR) is an important mechanism of atrial fibrillation (AF).GTP cyclohydrolase I (GTPCH-1), encoded by GCH1, is the rate-limiting enzyme in de novosynthesis of tetrahydrobiopterin (BH4), an essential cofactor for nitric oxide (NO) synthesis. Previous studies reported that increased BH4 and NO content negatively regulated nerve regeneration. This study investigated effects of GCH1on ANR via BH4 pathway, regulated by microRNA-206 (miR-206)...
February 13, 2018: Pacing and Clinical Electrophysiology: PACE
Xiaopu Zhou, Yu Chen, Kin Y Mok, Qianhua Zhao, Keliang Chen, Yuewen Chen, John Hardy, Yun Li, Amy K Y Fu, Qihao Guo, Nancy Y Ip
Alzheimer's disease (AD) is a leading cause of mortality among the elderly. We performed a whole-genome sequencing study of AD in the Chinese population. In addition to the variants identified in or around the APOE locus (sentinel variant rs73052335, P = 1.44 × 10-14 ), two common variants, GCH1 (rs72713460, P = 4.36 × 10-5 ) and KCNJ15 (rs928771, P = 3.60 × 10-6 ), were identified and further verified for their possible risk effects for AD in three small non-Asian AD cohorts. Genotype-phenotype analysis showed that KCNJ15 variant rs928771 affects the onset age of AD, with earlier disease onset in minor allele carriers...
February 20, 2018: Proceedings of the National Academy of Sciences of the United States of America
Anh Nhat Tran, Kiera Walker, David G Harrison, Wei Chen, James Mobley, Lauren Hocevar, James R Hackney, Randee S Sedaka, Jennifer S Pollock, Matthew S Goldberg, Dolores Hambardzumyan, Sara J Cooper, Yancey Gillespie, Anita B Hjelmeland
Background: Depending on the level, differentiation state, and tumor stage, reactive nitrogen and oxygen species inhibit or increase cancer growth and tumor initiating cell maintenance. The rate limiting enzyme in a pathway that can regulate reactive species production but has not been thoroughly investigated in glioblastoma (GBM; grade IV astrocytoma) is GTP cyclohydrolase 1 (GCH1). We sought to define the role of GCH1 in the regulation of GBM growth and brain tumor initiating cell maintenance...
February 2, 2018: Neuro-oncology
Kunfang Yang, Rongrong Yin, Xiaoping Lan, Yuanfeng Zhang, Hongyi Cheng, Simei Wang, Chunmei Wang, Yanfen Lu, Jiaming Xi, Qin Lu, Jianjun Huang, Yucai Chen
BACKGROUND This study aimed to clarify the diagnosis and expand the understanding of dopa-responsive dystonia (DRD). MATERIAL AND METHODS Relevant data from clinical diagnoses and genetic mutational analyses in 3 Han Chinese patients with sporadic DRD were collected and analyzed. Protein structure/function was predicted. RESULTS One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T (p.R153X), c.739G>A (p.G247S), and c.698G>A (p.R227H) in tyrosine hydroxylase (TH) have been found and predicted to be damaging or deleterious...
February 6, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Gisele Kruger Couto, Suliana Mesquita Paula, Igor L Gomes-Santos, Carlos Eduardo Negrão, Luciana Venturini Rossoni
Exercise training (ET) has emerged as a non-pharmacological therapy for cardiovascular diseases because of its helpful milieu for improving vascular function. The aim of the present study was to assess whether ET reverses the alterations in vascular reactivity observed in heart failure (HF)-related coronary arteries and to elucidate the molecular mechanisms involved in these adjustments. Male Wistar rats were subjected to either coronary artery ligation or sham operation (SO). Four weeks after the surgery, the rats were divided into two groups: untrained HF (UHF) and exercise-trained HF (THF)...
January 5, 2018: American Journal of Physiology. Heart and Circulatory Physiology
Abirami Veluchamy, Harry L Hébert, Weihua Meng, Colin N A Palmer, Blair H Smith
Neuropathic pain (NP) is an increasingly common chronic pain state and a major health burden, affecting approximately 7-10% of the general population. Emerging evidence suggests that genetic factors could partially explain individual susceptibility to NP and the estimated heritability in twins is 37%. The aim of this study was to systematically review and summarize the studies in humans that have investigated the influence of genetic factors associated with NP. We conducted a comprehensive literature search and performed meta-analyses of all the potential genetic variants associated with NP...
January 18, 2018: Pain
Corinne E Weisheit, Samuel S Pappas, William T Dauer
Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations...
2018: Handbook of Clinical Neurology
Chen-Chih Yang, Wei-Chung Wang, Tu-Hsueh Yeh, Tzu-Hsuan Chen, Yen-Liang Liu, Ming-Kuei Lu, Chin-Song Lu, Chon-Haw Tsai
BACKGROUND: Dopa-responsive dystonia (DRD) is a clinical syndrome characterized by early onset dystonia and a dramatic response to relatively low doses of levodopa. The autosomal dominant DRD is caused by mutations in the gene coding GTP cyclohydrolase 1 (GCH1), the enzyme that catalyzes the first step in the biosynthesis of tetrahydrobiopterin. We herein report a novel gene mutation causally links to DRD. SUBJECT AND METHODS: A 23-year-old woman, presented with a history of gait abnormality and leg dystonia at age 15...
December 26, 2017: Clinical Neurology and Neurosurgery
Linn E Katus, Steven J Frucht
Background: Dopa-responsive dystonia (DRD) has largely been associated with autosomal dominant mutations in the GCH1 gene leading to GTP cyclohydrolase 1 deficiency. More recently, a deficiency in tyrosine hydroxylase (TH) has been recognized to cause DRD. This is a rare disorder resulting from genetic mutations in the TH gene on chromosome 11. The phenotype ranges from DRD with complete resolution on levodopa to infantile parkinsonism and encephalopathy only partially responsive to levodopa...
2017: Journal of Clinical Movement Disorders
Ali S Shalash, Thomas W Rösler, Stefanie H Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U Höglinger
Objective: To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods: Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate the functional consequences of detected genetic variants, urinary sepiapterin concentrations were determined by high-performance liquid chromatography...
December 2017: Neurology. Genetics
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
Devjit Srivastava
Study design: Narrative review. Method: Eight bibliographic databases were searched for studies published in the (last five years up until Feb 2017). For the two database searches (Cochrane and DARE), the time frame was unlimited. The review involved keyword searches of the term 'Amputation' AND 'chronic pain'. Studies selected were interrogated for any association between peri-operative factors and the occurrence of chronic post amputation pain (CPAP). Results: Heterogeneity of study populations and outcome measures prevented a systematic review and hence a narrative synthesis of results was undertaken...
November 2017: British Journal of Pain
Yongqin Zhang, Jinhui Liu, Wen Fu, Wenting Xu, Huiqin Zhang, Shujuan Chen, Wenbin Liu, Liangyue Peng, Yamei Xiao
BACKGROUND: Crucian carp is a popular ornamental strain in Asia with variants in body color. To further explore the genetic mechanisms underlying gray and red body color formation in crucian carp, the skin transcriptomes and partial DNA methylation sites were obtained from red crucian carp (RCC) and white crucian carp (WCC). Here, we show significant differences in mRNA expression and DNA methylation sites between skin tissues of RCC and WCC. RESULTS: Totals of 3434 and 3683 unigenes had significantly lower and higher expression in WCC, respectively, compared with unigenes expressed in RCC...
November 9, 2017: BMC Genetics
E R Timmers, A Kuiper, M Smit, A L Bartels, D J Kamphuis, N I Wolf, B T Poll-The, T Wassenberg, E A J Peeters, T J de Koning, M A J Tijssen
BACKGROUND: In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. METHODS: Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls...
October 10, 2017: Parkinsonism & related Disorders
Simona Tomassi, Sarah Tosato
Childhood Trauma (CT) mediation of the epigenome and its impact on gene expression profile could provide a mechanism for the gene-environment interaction underling psychosis. We reviewed the evidence concerning epigenetic and gene expression modifications associated with CT in both First-Episode Psychosis (FEP) and healthy subjects. In order to explore the relative role of psychosis itself in determining these modifications, evidence about FEP and epigenetics/gene expression was also summarized. We performed a systematic search on PubMed, last updated in December 2016...
December 2017: Neuroscience and Biobehavioral Reviews
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