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Enzyme multisystem

Christian Hendriksz, Saikat Santra, Simon A Jones, Tarekegn Geberhiwot, Lynne Jesaitis, Brian Long, Yulan Qi, Sara M Hawley, Celeste Decker
Elosulfase alfa is an enzyme replacement therapy for Morquio A syndrome (mucopolysaccharidosis IVA), a multisystemic progressive lysosomal storage disorder. This report includes the primary treatment outcomes and immunogenicity profile of elosulfase alfa in patients with Morquio A syndrome from 2 sequential studies, MOR-002 (ClinicalTrials.govNCT00884949) and MOR-100 (NCT01242111), representing >5 years of clinical study data. MOR-002 was an open-label, single-arm phase 1/2 study that evaluated the pharmacokinetics, safety, immunogenicity, and preliminary efficacy of 3 sequential doses of elosulfase alfa (0...
February 19, 2018: Molecular Genetics and Metabolism
Priyanka Mukherjee, Amarjit Karam, Uttam Singh, Amit Kumar Chakraborty, Surmani Huidrom, Arnab Sen, Indu Sharma
Aim: A pilot study was carried out to find out the seroprevalence of Porcine circovirus 2 (PCV2), classical swine fever virus (CSFV), and Porcine respiratory and reproductive syndrome virus (PRRS) in pig population of Meghalaya. Materials and Methods: Serum samples were collected from piglets of 40-45 days age group, growers, and sows reared under organized and unorganized management in 11 districts of Meghalaya situated in the Khasi, Jaintia, and Garo hills divisions in the time period of 2014-2016 from apparently healthy and suspected pigs...
January 2018: Veterinary World
José Rm Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases within the congenital disorders of glycosylation...
February 19, 2018: Genetics and Molecular Biology
Rodolfo Villagra-Blanco, Lora Angelova, Theresa Conze, Gereon Schares, Andrea Bärwald, Anja Taubert, Carlos Hermosilla, Axel Wehrend
BACKGROUND: Neospora caninum is an intracellular obligate apicomplexan parasite responsible for multisystemic lesions in dogs. Being definitive hosts and reservoirs, dogs excrete environmentally resistant oocysts. Breeding bitches represent a susceptible dog group and infected bitches may spread this parasite through transplacental transmission. RESULTS: A total of 218 serum samples of German breeding bitches were collected to determine the presence of N. caninum...
February 17, 2018: Parasites & Vectors
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
March 2018: Molecular Genetics and Metabolism
Devi Dayal, Olivia Pepper, Renuka Ramakrishnan, Eileen Baildam, Poonam Dharmaraj, Gavin Cleary, Liza McCann, Clare Pain, Senthil Senniappan
Introduction: Sarcoidosis is a multisystemic granulomatous disease with diverse and often non-specific symptoms during childhood. The clinical manifestations sometimes include endocrinopathies related to sarcoid infiltration of various endocrine organs, but more commonly due to the associated autoimmune endocrine disorders. There are only a few reports of multiple autoimmune and non-autoimmune endocrine problems occurring simultaneously in patients with sarcoidosis. We report a girl with probable sarcoidosis who also had Hashimoto's thyroiditis, Type 1 diabetes (T1D) and secondary adrenal insufficiency...
October 2017: International Journal of Endocrinology and Metabolism
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
Mieke Aldenhoven, Brigitte T A van den Broek, Robert F Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A Jones, Rossella Parini, Peter M van Hasselt, Marleen Renard, Victoria Bordon, Tom J de Koning, Jaap Jan Boelens
Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and psychosocial health and compared the outcomes to normative data using the Child Health Questionnaire and Pediatric Outcomes Data Collection Instrument...
November 14, 2017: Blood Advances
Diran Herebian, Annette Seibt, Sander H J Smits, Richard J Rodenburg, Ertan Mayatepek, Felix Distelmaier
The clinical phenotypes of human CoQ10-deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4-hydroxybenzoic acid (4-HBA) fully restores endogenous CoQ10-biosynthesis in COQ2-deficient cell lines. This was accompanied by increased protein expression of CoQ10-biosynthesis-enzymes as well as a rescue of cell viability during stress conditions. In silico analysis suggested a ligand transportation path for 4-HBA through the COQ2 protein towards the mitochondrial matrix side...
December 2017: Annals of Clinical and Translational Neurology
Amita Ray, Sujoy Ray
BACKGROUND: Pre-eclampsia is a pregnancy-specific multi-organ disorder, which is characterised by hypertension and multisystem organ involvement and which has significant maternal and fetal morbidity and mortality. Failure of the placental vascular remodelling and reduced uteroplacental flow form the etiopathological basis of pre-eclampsia. There are several established therapies for pre-eclampsia including antihypertensives and anticonvulsants. Most of these therapies aim at controlling the blood pressure or preventing complications of elevated blood pressure, or both...
November 28, 2017: Cochrane Database of Systematic Reviews
Benedikt Schoser, Deborah A Bilder, David Dimmock, Digant Gupta, Emma S James, Suyash Prasad
BACKGROUND: Humanistic burden considers the impact of an illness on a patient's health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain...
November 22, 2017: BMC Neurology
Zora Lazúrová, Peter Mitro
Adenosine is a nucleoside regulating many physiological and pathological processes in human organism. It is produced by almost all cells and is metabolised by adenosinedeaminase enzyme. Effect of adenosine is mediated by three types of adenosine receptors. Adenosinergic system significantly influences function of cardiovascular system, furthemore it plays a key role in sleep homeostasis, in regulation of bone metabolism and activation of immune system. Adenosine mediates effect of various hormones, but also adenosine itself has its own autocrine, paracrine and systemic effects...
2017: Vnitr̆ní Lékar̆ství
Fernando Perretta, Norberto Antongiovanni, Sebastián Jaurretche
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood...
2017: Case Reports in Nephrology
Javier Martín-de-Carpi, Melinda Moriczi, Gemma Pujol-Muncunill, Victor M Navas-López
Inflammatory bowel disease (IBD) is a chronic condition that includes two clinical entities: Crohn's disease and ulcerative colitis. Although both entities mainly affect the gastrointestinal tract are considered multisystemic diseases and may present extraintestinal manifestations involving other organs and systems. Pancreatic involvement in Pediatric IBD includes a heterogeneous group of clinical entities like acute pancreatitis, chronic pancreatitis, autoimmune pancreatitis, asymptomatic exocrine pancreatic insufficiency, increased pancreatic enzyme levels, structural abnormalities, and granulomatous inflammation...
2017: Frontiers in Pediatrics
Matthias Zielonka, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Markus Ries
PurposeFarber disease (OMIM 22800) is an ultrarare progressive multisystemic neurodevelopmental storage disorder caused by a deficiency of the lysosomal enzyme acid ceramidase (AC). Hard clinical end points for future clinical trials remain to be defined.MethodsWe quantitatively analyzed published cases with Farber disease (N = 96). The main outcome variables were survival and diagnostic delay. As a potential predictor of survival, the influence of residual AC enzyme activity was investigated. The analysis was performed in compliance with STROBE criteria...
October 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Geetakiran Arakkal, Sudha Rani Chintagunta, Vasavilatha Chandika, Sudha Vani Damarla, Srinivas Manchala, B Udaya Kumar
BACKGROUND: Systemic sclerosis is a multisystem disorder characterized by microangiopathy, dysregulation of the immune system and massive deposition of collagen in the connective tissue of the skin, blood vessels and various internal organs. Although the mortality from renal crises has dropped significantly due to the use of angiotensin-converting enzyme inhibitors, cardiac and pulmonary involvement accounts for significant morbidity and mortality. We studied 28 patients with systemic sclerosis at Gandhi Medical College and Hospital, Hyderabad, over a period of two years for cardiopulmonary involvement...
November 2017: Indian Journal of Dermatology, Venereology and Leprology
Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase (ASB) deficiency and the consequent accumulation of glycosaminoglycan. A previous case report highlighted that 3 years of ERT with recombinant human ASB (galsulfase) was well tolerated and effective in two Japanese siblings with MPS VI who initiated ERT at 5...
December 2017: Molecular Genetics and Metabolism Reports
René G Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A Jourdain, Kyle Thompson, Aaron R D'Souza, Robert Kopajtich, Charlotte L Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M Strom, Saskia B Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F Chinnery, Zofia M Chrzanowska-Lightowlers, Robert N Lightowlers, Salvatore DiMauro, Sarah E Calvo, Vamsi K Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A Mayr, Robert W Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure...
October 5, 2017: American Journal of Human Genetics
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family...
September 15, 2017: Journal of Medical Genetics
Yang Chen, Joel N Meyer, Helene Z Hill, Gudrun Lange, Michael R Condon, Jacquelyn C Klein, Duncan Ndirangu, Michael J Falvo
Gulf War Illness (GWI) is a chronic multi-symptom illness not currently diagnosed by standard medical or laboratory test that affects 30% of veterans who served during the 1990-1991 Gulf War. The clinical presentation of GWI is comparable to that of patients with certain mitochondrial disorders-i.e., clinically heterogeneous multisystem symptoms. Therefore, we hypothesized that mitochondrial dysfunction may contribute to both the symptoms of GWI as well as its persistence over time. We recruited 21 cases of GWI (CDC and Kansas criteria) and 7 controls to participate in this study...
2017: PloS One
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