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Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Masahiro Kimura, Satoshi Wakita, Kotarou Ishikawa, Kazutaka Sekine, Satoshi Yoshikawa, Akira Sato, Kazuaki Okawa, Akinori Kashimura, Masayoshi Sakaguchi, Yasusato Sugahara, Daisuke Yamanaka, Naohito Ohno, Peter O Bauer, Fumitaka Oyama
Chitotriosidase (Chit1) is an enzyme associated with various diseases, including Gaucher disease, chronic obstructive pulmonary disease, Alzheimer disease and cystic fibrosis. In this study, we first expressed mouse mature Chit1 fused with V5 and (His)6 tags at the C-terminus (Chit1-V5-His) in the cytoplasm of Escherichia coli and found that most of the expressed protein was insoluble. In contrast, Chit1 tagged with Protein A at the N-terminus and V5-His at the C-terminus, was expressed in the periplasmic space of E...
2016: PloS One
Elif Azarsız, Neslihan Karaca, Erturk Levent, Necil Kutukculer, Eser Sozmen
BACKGROUND: Common variable immunodeficiency (CVID) is a rare clinically symptomatic primary immunodeficiency disorder which manifests a wide variability of symptoms, complications. Atherosclerosis in CVID patients have not been investigated yet contrary to other severe clinical complications. We aimed to investigate the chitotriosidase enzyme's role as an inflammation and atherosclerosis marker in pediatric CVID patients. METHODS: CVID patients (n =24) and healthy controls (n = 23) evaluated for chitotriosidase activity with other inflammation markers (hsCRP, myeloperoxidase, serum amyloid A, ferritin), lipid profile and echocardiographic findings (carotid artery intima media thickness - cIMT, brachial artery flow-mediated vazodilatation - FMD%)...
October 4, 2016: Annals of Clinical Biochemistry
Tatyana Korolenko, Thomas P Johnston, Alexander P Lykov, Alexandra B Shintyapina, Marina V Khrapova, Natalya V Goncharova, Erik Korolenko, Nataliya P Bgatova, Eva Machova, Zuzana Nescakova, Ludmila V Sakhno
OBJECTIVES: We evaluated the hypolipidaemic effect of mannan Candida albicans serotype A, relative to atorvastatin, in a mouse model of hyperlipidaemia. METHODS: Mannan serotype A was investigated in vitro and in vivo to determine its effects on macrophage proliferation, nitric oxide (NO) production by cultured macrophages, serum and liver lipids, changes in liver morphology and serum chitotriosidase activity and its expression in the liver. KEY FINDINGS: Mannan serotype A stimulates the macrophage proliferation and NO production in murine peritoneal macrophages in vitro...
October 5, 2016: Journal of Pharmacy and Pharmacology
Ewa Żurawska-Płaksej, Maria Knapik-Kordecka, Anna Rorbach-Dolata, Agnieszka Piwowar
INTRODUCTION: Chitotriosidase (CHIT1) is a chitinolytic enzyme involved mainly in the immune and inflammatory response. It shows increased activity in many pathologies, including in newly diagnosed type 2 diabetes (T2D). This study aimed to investigate this enzyme's activity in plasma of patients with ongoing T2D and indicate factors related to the increased activity of this enzyme. MATERIAL AND METHODS: Ninety-one patients and 46 control subjects without abnormalities in carbohydrate metabolism and inflammatory states were enrolled in the study...
October 1, 2016: Archives of Medical Science: AMS
Gertjan Kramer, Wouter Wegdam, Wilma Donker-Koopman, Roelof Ottenhoff, Paulo Gaspar, Marri Verhoek, Jessica Nelson, Tanit Gabriel, Wouter Kallemeijn, Rolf G Boot, Jon D Laman, Johannes P C Vissers, Timothy Cox, Elena Pavlova, Mary Teresa Moran, Johannes M Aerts, Marco van Eijk
Gaucher disease is caused by inherited deficiency of lysosomal glucocerebrosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB). Plasma gpNMB was also elevated, correlating with chitotriosidase and CCL18, which are established markers for human Gaucher cells. In Gaucher mice, gpNMB is also produced by Gaucher cells. Correction of glucocerebrosidase deficiency in mice by gene transfer or pharmacological substrate reduction reverses gpNMB abnormalities...
September 2016: FEBS Open Bio
Xueping Chen, Yongping Chen, Qianqian Wei, Ruwei Ou, Bei Cao, Bi Zhao, Hui-Fang Shang
BACKGROUND: The aim of the study was to assess a panel of promising biomarkers for their ability to improve diagnosis of sporadic amyotrophic lateral sclerosis (ALS). METHODS: Forty patients with sporadic ALS and 40 controls with other neurological diseases were evaluated. Levels of phosphorylated neurofilament heavy chain (pNfH), S100-β, cystatin C, and chitotriosidase (CHIT) in cerebrospinal fluid were assayed using two-site solid-phase sandwich ELISA. RESULTS: Patients with sporadic ALS showed higher levels of pNfH and CHIT than controls, but lower levels of cystatin C...
September 15, 2016: BMC Neurology
Ari Zimran, Gloria Durán, Pilar Giraldo, Hanna Rosenbaum, Fiorina Giona, Milan Petakov, Eduardo Terreros Muñoz, Sergio Eduardo Solorio-Meza, Peter A Cooper, Sheeba Varughese, Sari Alon, Raul Chertkoff
Taliglucerase alfa, the first available plant cell-expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease (GD). PB-06-001, a pivotal phase 3, multicenter, randomized, double-blind, parallel-dose study investigated taliglucerase alfa 30 or 60U/kg every other week through 9months in treatment-naïve adults with GD; 30-month extension study PB-06-003 followed. Patients completing PB-06-001 and PB-06-003 could continue treatment in PB-06-007. Nineteen patients enrolled in PB-06-007 (30U/kg, n=8; 60U/kg, n=9; dose adjusted, n=2); 17 completed 5 total years of treatment...
July 18, 2016: Blood Cells, Molecules & Diseases
M Arias
INTRODUCTION: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities). DEVELOPMENT: This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis...
July 23, 2016: Neurología: Publicación Oficial de la Sociedad Española de Neurología
A Schänzer, D Faas, S Rust, T Podskarbi, A B P van Kuilenburg, M Scarpa, A Kunze, T Marquardt, A Hahn
No abstract text is available yet for this article.
September 2016: Klinische Pädiatrie
Vagishwari Murugesan, Wei-Lien Chuang, Jun Liu, Andrew Lischuk, Katherine Kacena, Haiqun Lin, Gregory M Pastores, Ruhua Yang, Joan Keutzer, Kate Zhang, Pramod K Mistry
Gaucher disease (GD) leads to accumulation of glucosylceramide (GL1) and its deacylated lysolipid, glucosylsphingosine (lyso-GL1) which is implicated in mediating immune dysregulation and skeletal disease. The aim of our study was to assess plasma Lyso-GL1 as a biomarker of GD and its response to therapy. Plasma lyso-GL1 in 169 patients with GD type 1 (GD1) was measured by LC-MS/MS. Significant predictors of were assessed by Pearson's correlation coefficient, Wilcoxon Mann Whitney test and multiple linear regression...
July 21, 2016: American Journal of Hematology
Mamta Muranjan, Smita Patil
OBJECTIVE: To study disease severity and response to enzyme replacement therapy in Gaucher disease. METHODS: Updated data was captured from records of 37 patients (35 reported previously) with confirmed diagnosis of Gaucher disease from January 1995 through December 2011 (31, 83.8 %) and prospectively from January 2012 through June 2013 (6, 16.2 %). Severity of manifestations was determined by Gaucher disease Severity Score Index. Response to enzyme replacement therapy was assessed in terms of attainment of therapeutic goals...
August 8, 2016: Indian Pediatrics
Aydın Güçlü, Mahmut Ilker Yilmaz, Turgut Tursem Tokmak, Hilmi Umut Unal, Murat Karaman, Mustafa Gezer, Ahmet Taş, İbrahim Aydin, Raziye Akçılar, Yusuf Dursun
Introduction Increasing evidence suggests that inflammation and increased macrophage activity have a central role in pathogenesis of atherosclerosis. It is shown that chitotriosidase (CHIT-1) is a marker of macrophage activity in atherosclerotic plaque, and is found associated with severity of atherosclerotic lesion. There is no data about CHIT-1 activity of hemodialysis patients in the literature. Thus, we hypothesized that in hemodialysis patients, CHIT-1 levels might be a novel biomarker in early atherosclerosis...
July 4, 2016: Hemodialysis International
M Weckmann, C Schultheiss, A Hollaender, I Bobis, J Rupp, M V Kopp
Recent data suggest a possible relationship between cystic fibrosis (CF) pharmacotherapy, Aspergillus fumigatus colonization (AC) and/or allergic bronchopulmonary aspergillosis (ABPA). The aim of this study was to determine if anti-fungal defence mechanisms are influenced by CF pharmacotherapy, i.e. if (1) neutrophils form CF and non-CF donors differ in their ability to produce chitotriosidase (CHIT-1); (2) if incubation of isolated neutrophils with azithromycin, salbutamol, prednisolone or rhDNase might influence the CHIT-1 activity; and (3) if NETosis and neutrophil killing efficiency is influenced by rhDNase...
September 2016: Clinical and Experimental Immunology
Gregory M Pastores, Hadhami Ben Turkia, Derlis E Gonzalez, Hiroyuki Ida, Azza A G Tantawy, Yulin Qin, Yongchang Qiu, Quinn Dinh, Ari Zimran
Anti-drug antibodies may develop with biological therapies, possibly leading to a reduction of treatment efficacy and to allergic and other adverse reactions. Patients with Gaucher disease were tested for anti-drug antibodies every 6 or 12weeks in clinical studies of velaglucerase alfa enzyme replacement therapy, as part of a range of safety endpoints. In 10 studies between April 2004 and March 2015, 289 patients aged 2-84years (median 43years) were assessed for the development of anti-velaglucerase alfa antibodies...
July 2016: Blood Cells, Molecules & Diseases
G S Ribas, H M Souza, J de Mari, M Deon, C Mescka, M L Saraiva-Pereira, R Kessler, F Trapp, K Michelin, M Burin, C R Vargas, R Giugliani
No abstract text is available yet for this article.
August 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Ari Zimran, Gloria Durán, Atul Mehta, Pilar Giraldo, Hanna Rosenbaum, Fiorina Giona, Dominick J Amato, Milan Petakov, Eduardo Terreros Muñoz, Sergio Eduardo Solorio-Meza, Peter A Cooper, Sheeba Varughese, Raul Chertkoff, Einat Brill-Almon
Taliglucerase alfa is an intravenous enzyme replacement therapy approved for treatment of type 1 Gaucher disease (GD), and is the first available plant cell-expressed recombinant therapeutic protein. Herein, we report long-term safety and efficacy results of taliglucerase alfa in treatment-naïve adult patients with GD. Patients were randomized to receive taliglucerase alfa 30 or 60 U/kg every other week, and 23 patients completed 36 months of treatment. Taliglucerase alfa (30 U/kg; 60 U/kg, respectively) resulted in mean decreases in spleen volume (50...
July 2016: American Journal of Hematology
P Pohls, L González-Dávalos, O Mora, A Shimada, A Varela-Echavarria, E M Toledo-Cuevas, C A Martínez-Palacios
The expression and digestive activity of pike silverside Chirostoma estor endogenous chitinases were analysed in samples from four life stages: whole eggs; larvae; juvenile intestine and hepatopancreas and adult intestine and hepatopancreas. A chitinase cDNA was cloned and partially sequenced (GenBank accession number: FJ785521). It was highly homologous to non-acidic chitinase sequences from other fish species, suggesting that it is a chitotriosidase. Quantitative PCR showed that this chitinase was expressed throughout the life span of C...
June 2016: Journal of Fish Biology
Fei-Feng Li, Peng Yan, Zhi-Xun Zhao, Zheng Liu, Da-Wei Song, Xing-Wang Zhao, Xi-Shan Wang, Gui-Yu Wang, Shu-Lin Liu
Colorectal cancer (CRC) is one of the most common solid tumors worldwide, often associated with inflammation. The microbes in the human intestine have a key role in inflammations and CRC. Chitotriose renders growth advantage to some bacteria, especially some pathogens, and thus has a role in inflammations. The enzyme chitotriosidase, encoded by the CHIT1 gene of the host, may degrade chitotriose with different efficiencies depending on the alleles. We sequenced the CHIT1 gene for 320 Chinese Han CRC patients and 404 normal controls, and focused on variations rs61745299 and rs35920428 within the CHIT1 gene for their possible roles in CRC...
May 2, 2016: Oncotarget
Gavriella Mavrikiou, Petros Petrou, Theodoros Georgiou, Anthi Drousiotou
OBJECTIVES: The purpose of this study was to determine the normal range of chitotriosidase activity in the Cypriot population and the frequency of the 24bp duplication polymorphism. Furthermore, we compared the allele frequency of this polymorphism in two locations with different malaria endemicity in the past. DESIGN AND METHODS: Plasma chitotriosidase activity was measured using a fluorogenic substrate. The 24bp polymorphism was detected using PCR analysis of exon 10 of the CHIT1 gene...
August 2016: Clinical Biochemistry
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