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Filippo Manti, Francesca Nardecchia, Sabina Barresi, Martina Venditti, Simone Pizzi, Fadi F Hamdan, Nenad Blau, Alberto Burlina, Marco Tartaglia, Vincenzo Leuzzi
INTRODUCTION: Clathrins play a key role in endocytosis, recycling, and trafficking as well as the generation of presynaptic vesicles. We report a new clinical condition associated with a de novo variant in the CLTC gene, which encodes the clathrin heavy polypeptide. CASE REPORT: This 30-year-old woman presented with a developmental disorder during childhood that progressed to mild cognitive decline in late childhood and relapsing-remitting hypokinetic-rigid syndrome with severe achalasia, weight loss, and mood disorder in adulthood...
October 11, 2018: Parkinsonism & related Disorders
Saki Kasuga, Daijiro Kabata, Tomoko Sakaguchi, Satoshi Kudoh, Satsuki Nishigaki, Yusuke Higa, Shiori Fujikawa, Hiroko Fujitani, Ayumi Shintani, Takashi Hamazaki, Haruo Shintaku
BACKGROUND: Pteridines are metabolites of tetrahydrobiopterin, which serves as co-enzyme of nitric oxide synthase. We sought to investigate the usefulness of pteridines as biomarkers for childhood asthma control. METHODS: We conducted a single-center prospective cohort study involving 168 asthmatic children aged 4-17 years who visited the periodical asthma checkup program. Serum neopterin and biopterin levels were measured as pteridines at each visit along with measurement of FeNO, respiratory function tests, nasal eosinophil test, blood eosinophil count, and IgE level...
October 5, 2018: Allergology International: Official Journal of the Japanese Society of Allergology
Ania C Muntau, Marcel du Moulin, Francois Feillet
BACKGROUND: Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sapropterin in the European Union was extended in 2015 to include patients aged 0-4 years, bringing the treatment age range in line with that in the USA and providing an additional treatment option for those patients with PKU who are responsive or partially responsive to treatment with sapropterin...
September 29, 2018: Orphanet Journal of Rare Diseases
Jade Bailey, Simon Davis, Andrew Shaw, Marina Diotallevi, Roman Fischer, Matthew A Benson, Hanneng Zhu, James Brown, Shoumo Bhattacharya, Benedikt M Kessler, Keith M Channon, Mark J Crabtree
Nitric Oxide (NO) is an intracellular signalling mediator, which affects many biological processes via the posttranslational modification of proteins through S-nitrosation. The availability of NO and NOS-derived reactive oxygen species (ROS) from enzymatic uncoupling are determined by the NO synthase cofactor Tetrahydrobiopterin (BH4). Here, using a global proteomics "biotin-switch" approach, we identified components of the ubiquitin-proteasome system to be altered via BH4-dependent NO signalling by protein S-nitrosation...
September 25, 2018: Scientific Reports
Ting Chen, Zhengyan Zhao, Pingping Jiang, Qiang Shu
Hyperphenylalaninemia(HPA), an autosomal recessive disease, is the most common inborn error of amino acid metabolism, caused by the deficiency of phenylalanine hydroxylase(PAH) or tetrahydrobiopterin(BH4) which induced by mutations of genes. The accumulation of the clinical database and genetic information will enhance the development of novel personalized medicine and to provide more accurate and timely diagnostic and therapeutic approaches for HPA. This paper summarizes the correlations between HPA metabolism and PAH, BH4, pathogenic genes and their distributions in HPA, as well as the phenotypes and genotypes of HPA, so as to provide reference for personalized medicine for HPA...
May 25, 2018: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
Long Li, Yulan Qin, Yajie Su, Haili Jiang, Nuerya Rejiafu, Mingzhu Li, Ayijiamali Muhetaer, Yongqiao Liu, Yan Ren
BACKGROUND: Tetrahydrobiopterin (BH4 ) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of this study are to analyze the genotype-phenotype and the pedigree of the first case of BH4 deficiency in the Uygur of China. METHODS: (a) This patient received tandem mass spectrometry, urinary neopterin and biopterin analysis, and determination of dihydropteridine reductase (DHPR) activity in dried blood spots...
September 17, 2018: Journal of Clinical Laboratory Analysis
Yi Feng, Sichi Liu, Chengfang Tang, Xiang Jiang, Fang Tang, Bei Li, Xuefang Jia, Qianyu Chen, Jilian Liu, Yonglan Huang
Hyperphenylalaninemia (HPA), an abnormal condition of phenylalanine metabolism, was recently reported to be caused by DNAJC12 mutations. As the heat shock co-chaperone, DNAJC12 prevents the aggregation of misfolded or aggregation-prone proteins and maintain the correct assembly and degradation. Here, we report a patient with unexplained HPA detected by newborn screening. Differential diagnoses of pterin profile and targeted next generation sequencing of excluded the most common causes of the defects of the enzyme phenylalanine hydroxylase or its cofactor tetrahydrobiopterin (BH4)...
September 1, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Li Yu, Hua Liu
BACKGROUNDS: Nitric oxide (NO) produced by endothelial NO synthase (eNOS) is essential for cardiovascular homeostasis owing to its anti-inflammatory, antithrombotic, antiproliferative, and antioxidant effects. Perillaldehyde (PAH), one of the major oil components in Perilla frutescens, has anti-inflammatory effects. AIM: This study was designed to explore whether PAH prevents atherosclerosis through normalizing eNOS functions. METHODS: The model of atherosclerosis was induced by feeding rats and mice with high-fat diet or plus balloon injury...
September 1, 2018: Journal of Cellular Biochemistry
D Doummar, F Moussa, M-C Nougues, C Ravelli, M Louha, S Whalen, L Burglen, D Rodriguez, T Billette de Villemeur
Neurotransmitter disorders comprise a rapidly expanding phenotypically and genetically heterogeneous group. Most of these disorders start in infancy through to childhood, although some forms may arise in adolescence and adulthood, and have various presentations. They may be overlooked if the phenotype leads to misdiagnoses involving various combinations of developmental disorders, hypotonia and movement disorders (dystonia, hyperkinesia, parkinsonism) or other clinical manifestations, such as sleep alterations and mood disorders...
August 27, 2018: Revue Neurologique
Joshua D McDonald, Eunice Mah, Chureeporn Chitchumroonchokchai, Elizabeth J Reverri, Jinhui Li, Jeff S Volek, Frederick A Villamena, Richard S Bruno
Replacing a portion of a glucose challenge with whole eggs (EGG) or egg whites (WHITE) was shown to protect against glucose-induced impairments in vascular function. We hypothesised in the present study that previously observed vasoprotection following co-ingestion of EGG or WHITE with glucose was attributed to limiting postprandial hyperglycaemia-induced oxidative stress that improves NO∙ bioavailability. Prediabetic men completed a randomised, cross-over study in which they ingested isoenergetic meals containing 100 g glucose (GLU), or 75 g glucose with 1·5 EGG, seven WHITE or two egg yolks (YOLK)...
October 2018: British Journal of Nutrition
Sylvie Vancassel, Lucile Capuron, Nathalie Castanon
The prevalence of depressive disorders is growing worldwide, notably due to stagnation in the development of drugs with greater antidepressant efficacy, the continuous large proportion of patients who do not respond to conventional antidepressants, and the increasing rate of chronic medical conditions associated with an increased vulnerability to depressive comorbidities. Accordingly, better knowledge on the pathophysiology of depression and mechanisms underlying depressive comorbidities in chronic medical conditions appears urgently needed, in order to help in the development of targeted therapeutic strategies...
2018: Frontiers in Neuroscience
Xinya Xie, Zihui Zhang, Xinfeng Wang, Zhenyu Luo, Baochang Lai, Lei Xiao, Nanping Wang
BACKGROUND: Hyperhomocysteinemia (HHcy) is an independent risk factor for cardiovascular diseases (CVDs). Stachydrine (STA) is an active component in Chinese motherwort Leonurus heterophyllus sweet, which has been widely used for gynecological and cardiovascular disorders. This study is aimed to examine the effects of STA on homocysteine (Hcy)-induced endothelial dysfunction. METHODS: The effects of STA on vascular relaxation in rat thoracic aortas (TA), mesenteric arteries (MA) and renal arteries (RA) were measured by using Multi Myograph System...
March 19, 2018: Molecular Medicine
Zhou Saijun, Li Xin, Wang Jie, Xiao Shumin, Liu Shuaihui, Yu Pei
VEGF-NO axis uncoupling is an important pathogenesis for DN. Reduced β 2GPI could play a part in VEGF signaling pathway and has a protective effect on diabetic vascular disease. This study investigates the effect of reduced β 2GPI on glomerular mesangial cells VEGF-NO axis uncoupling induced by high glucose. Compared to control group, glomerular mesangial cell line HBZY-1 cells treated with high glucose expressed higher levels of VEGF mRNA and protein and produced more ROS but less NO. The related proteins related to VEGF-NO axis were assayed...
2018: BioMed Research International
Dawn Cordeiro, Garrett Bullivant, Ronald D Cohn, Julian Raiman, Saadet Mercimek-Andrews
We report the outcome of 12 patients with inherited neurotransmitter disorders of monoamine, tetrahydrobiopterin and γ amino butyric acid metabolisms from a single Inherited Neurotransmitter Disorder Clinic including tyrosine hydroxylase (n=2), aromatic l-amino acid decarboxylase (n=1), 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase and succinic semialdehyde dehydrogenase deficiencies. Six patients (with 6-pyruvoyltetrahydropterin synthase, dihydropteridine reductase and tyrosine hydroxylase deficiencies) had normal neurodevelopmental outcome on treatment...
August 15, 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Jingyuan Li, Shangming Liu, Guangqing Cao, Yuanyuan Sun, Weiqian Chen, Fajin Dong, Jinfeng Xu, Cheng Zhang, Wencheng Zhang
Smoking is a major preventable risk factor for atherosclerosis. However, the causative link between cigarette smoke and atherosclerosis remains to be established. The objective of this study is to characterize the role of GTP cyclohydrolase 1 (GTPCH1), the rate-limiting enzyme for de novo tetrahydrobiopterin (BH4) synthesis, in the smoking-accelerated atherosclerosis and the mechanism involved. In vitro, human umbilical vein endothelial cells were treated with nicotine, a major component of cigarette smoke, which reduced the mRNA and protein levels of GTPCH1 and led to endothelial dysfunction...
August 9, 2018: Journal of Cellular and Molecular Medicine
Zhiqi Tang, Lijuan Liu, Yujie Guo, Guoxiong Deng, Meixiang Chen, Jinru Wei
The present study examined whether exendin‑4 (Ex4) can improve the endothelial dysfunction of apolipoprotein E knockout (APOE‑KO) mice fed a high‑cholesterol diet and the potential mechanism by which it acts. Genetically wild‑type (WT) C57BL/6 mice and APOE‑KO mice of C57BL/6 background, were each randomly assigned to receive either Ex4 treatment (Ex4‑treated, for 8 weeks) or not (control). The 4 groups were fed the same high‑cholesterol diet for 8 weeks. The following were measured at the end of the eighth week: Endothelium‑dependent vasodilation of the arteries; plasma nitric oxide (NO) and metabolic index; levels of endothelial NO synthase (eNOS); phosphorylated eNOS (p‑eNOS; Ser‑1,177); guanosine triphosphate cyclohydrolase‑1 (GCH1); and tetrahydrobiopterin (THB)...
September 2018: Molecular Medicine Reports
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Hina Ayesha
Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. Among aminoacidopathies, PKU is one of the most prevalent disorders in different populations. It may be caused by deficiency of BH4 or mutations in PAH. About 98% of PKU patients have mutations in the PAH, while the remaining have BH4 deficiency. If PKU is diagnosed earlier in life using advance analytical techniques (e...
2018: Critical Reviews in Eukaryotic Gene Expression
S LaCorte
It is thought that an ill defined biochemical cascade may lead to protracted withdrawal symptoms subsequent to discontinuance of routine use of benzodiazepine class drugs and establish chronic illness in some patients. In this review, published findings are presented that support the novel concept that withdrawal from benzodiazepine class drugs can trigger elevated and sustained levels of a potent oxidant called peroxynitrite via potentiation of the L-type voltage-gated calcium channels, and in the later stages of withdrawal, via excessive N-methyl-D-aspartate receptor activity, as well...
September 2018: Medical Hypotheses
Yanhua Qin, Weiming Hu, Yang Yang, Zhiying Hu, Weiyun Li, Marong Fang
Aberrant production of nitric oxide following inducible nitric oxide synthase (iNOS) expression has been implicated in cell death and contributes to ischemic brain injury. Tetrahydrobiopterin (BH4) is an essential cofactor of NOS activity. Herein, we evaluated antiapoptotic and anti-inflammatory effects of diamino-6-hydroxypyrimidine (DAHP), a guanosine 5'-triphosphate cyclohydrolase 1 (GTPCH1) inhibitor on focal cerebral ischemia-reperfusion injury by middle cerebral artery occlusion and reperfusion (MCAO) and investigated the underlying mechanism...
2018: Behavioural Neurology
Stephan C J Huijbregts, Annet M Bosch, Quirine A Simons, Rianne Jahja, Martijn C G J Brouwers, Leo M J De Sonneville, Maaike C De Vries, Floris C Hofstede, Carla E M Hollak, Mirian C H Janssen, Janneke G Langendonk, M Estela Rubio-Gozalbo, Jaap J Van der Meere, Ans T Van der Ploeg, Francjan J Van Spronsen
The aim of this study was to examine Health-Related Quality of Life (HRQoL) of patients with Phenylketonuria (PKU) in three different age groups and to investigate the impact of metabolic control and tetrahydrobiopterin (BH4) treatment on HRQoL of these patients. Participants were 90 early-treated patients aged 7 to 40 years (M = 21.0, SD = 10.1) and 109 controls aged 7 to 40.8 years (M = 19.4, SD = 8.6). HRQoL was assessed with the (generic) TNO-AZL questionnaires. Overall, good HRQoL was reported for children below 12 years of age, although they were judged to be less autonomic than their healthy counterparts...
July 7, 2018: Molecular Genetics and Metabolism
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