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mucopolysaccharidosis

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https://www.readbyqxmd.com/read/28334757/perturbations-in-cell-signaling-elicit-early-cardiac-defects-in-mucopolysaccharidosis-type-ii
#1
Roberto Costa, Andrea Urbani, Marika Salvalaio, Stefania Bellesso, Domenico Cieri, Ilaria Zancan, Mirella Filocamo, Paolo Bonaldo, Ildiko Szabò, Rosella Tomanin, Enrico Moro
Morphogens release and activity can be negatively affected by an impaired glycosaminoglycans (GAGs) turnover and proteoglycans assembly in the extracellular matrix, leading to altered tissue morphogenesis. In this work, we show that loss of Iduronate-2-sulfatase (IDS) activity, affecting GAGs catabolism and responsible for a life-threatening valvulopathy in mucopolysaccharidosis type II (MPSII), triggers early Sonic Hedgehog (Shh) and Wnt/β-catenin signaling defects, leading to aberrant heart development and atrioventricular valve formation in a zebrafish model...
February 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334745/disease-correction-by-aav-mediated-gene-therapy-in-a-new-mouse-model-of-mucopolysaccharidosis-type-iiid
#2
Carles Roca, Sandra Motas, Sara Marcó, Albert Ribera, Víctor Sánchez, Xavier Sánchez, Joan Bertolin, Xavier León, Jennifer Pérez, Miguel Garcia, Pilar Villacampa, Jesús Ruberte, Anna Pujol, Virginia Haurigot, Fatima Bosch
Gene therapy is a promising therapeutic alternative for Lysosomal Storage Disorders (LSD), as it is not necessary to correct the genetic defect in all cells of an organ to achieve therapeutically significant levels of enzyme in body fluids, from which non-transduced cells can uptake the protein correcting their enzymatic deficiency. Animal models are instrumental in the development of new treatments for LSD. Here we report the generation of the first mouse model of the LSD Muccopolysaccharidosis Type IIID (MPSIIID), also known as Sanfilippo syndrome type D...
February 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28315965/evaluation-of-oral-manifestations-of-patients-with-mucopolysaccharidosis-iv-and-vi-clinical-and-imaging-study
#3
Renata Quirino de Almeida-Barros, Paula Frassinetti Vasconcelos de Medeiros, Marcella Quirino de Almeida Azevedo, Adriana de Oliveira Lira Ortega, Angela Toshie Araki Yamamoto, Sheyla Kátia Lúcio Dornelas, Patrícia Meira Bento
OBJECTIVE: The aim of this study is to assess oral manifestations in patients with mucopolysaccharidosis IV (MPS IVA) and mucopolysaccharidosis VI (MPS VI). MATERIALS AND METHODS: Seventeen patients were assessed, nine with MPS IVA and eight with MPS VI, treated at the Medical Genetics Outpatient Clinic of Hospital Universitário Alcides Carneiro (HUAC) in Campina Grande, Paraíba State, Brazil. Assessments included clinical and intraoral examinations, analysis of occlusal function, and panoramic X-rays...
March 19, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28306536/molecular-defects-identified-by-whole-exome-sequencing-in-a-child-with-atypical-mucopolysaccharidosis-iiib
#4
Qingwen Zeng, Yanjie Fan, Lili Wang, Zhuo Huang, Xuefan Gu, Yongguo Yu
BACKGROUND: Mucopolysaccharidosis IIIB (MPS IIIB) is a genetic disease characterized by mutations in the NAGLU gene, deficiency of α-N-acetylglucosaminidase, multiple congenital malformations and an increased susceptibility to malignancy. Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice. This misdiagnosis could be avoided by using next-generation sequencing (NGS) techniques, which have been shown to have superior performance for detecting mutations underlying rare inherited disorders in previous studies...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#5
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28294991/the-carotid-intima-media-thickness-and-arterial-stiffness-of-pediatric-mucopolysaccharidosis-patients-are-increased-compared-to-both-pediatric-and-adult-controls
#6
Raymond Y Wang, Kyle D Rudser, Donald R Dengel, Elizabeth A Braunlin, Julia Steinberger, David R Jacobs, Alan R Sinaiko, Aaron S Kelly
Treatments for mucopolysaccharidoses (MPSs) have increased longevity, but cardiovascular disease causes mortality in a significant percentage of survivors. Markers must be developed to predict MPS cardiac risk and monitor efficacy of investigational therapies.MPS patients underwent carotid artery ultrasonography from which carotid intima-media thickness (cIMT) and three measures of arterial stiffness were calculated: carotid artery distensibility (cCSD), compliance (cCSC), and incremental elastic modulus (cIEM)...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#7
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28279069/brain-and-organ-uptake-in-the-rhesus-monkey-in-vivo-of-recombinant-iduronidase-compared-to-an-insulin-receptor-antibody-iduronidase-fusion-protein
#8
Ruben J Boado, William M Pardridge
Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-l-iduronidase (IDUA), and patients with MPSI are currently treated with IDUA enzyme replacement therapy (ERT). However, the majority of MPSI patients have severe CNS involvement, and conventional ERT does not treat the brain. The failure of ERT to treat the brain is believed to be due to the lack of IDUA transport through the blood-brain barrier (BBB). However, BBB transport of IDUA has not been directly measured, to date...
March 16, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/28243577/evaluation-of-impact-of-anti-idursulfase-antibodies-during-long-term-idursulfase-enzyme-replacement-therapy-in-mucopolysaccharidosis-ii-patients
#9
R Giugliani, P Harmatz, S A Jones, N J Mendelsohn, A Vellodi, Y Qiu, C J Hendriksz, S Vijayaraghavan, D A H Whiteman, A Pano
OBJECTIVES: This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of idursulfase, and examined the effect of idursulfase-specific antibody generation on treatment safety (via infusion-related adverse events [IRAEs]) and pharmacodynamics (via urinary glycosaminoglycans [uGAGs]). METHODS: Male patients ≥ 5 years, enrolled in HOS regardless of idursulfase treatment status were eligible...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28223066/audiological-findings-in-children-with-mucopolysaccharidoses-type-i-iv
#10
María F Vargas-Gamarra, Carlos de Paula-Vernetta, Isidro Vitoria Miñana, Isabel Ibañez-Alcañiz, Laura Cavallé-Garrido, Agustín Alamar-Velazquez
OBJECTIVE: The aim of our study is to reflect hearing impairment of 23children diagnosed with mucopolysaccharidosis (MPS) typeI, II, III and IV. METHODS: Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23children diagnosed with MPS typeI, II, III or IV followed at a Tertiary Referral Hospital between 1997 and 2015. RESULTS: Six cases of MPSI, 8 of MPSII, 4 of MPSIII and 5 of MPSIV were reviewed...
February 18, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28220405/altered-cellular-homeostasis-in-murine-mps-i-fibroblasts-evidence-of-cell-specific-physiopathology
#11
Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D'Almeida
Mucopolysaccharidosis type I (MPS I), a rare autosomal recessive disease, is caused by a deficiency of the lysosomal enzyme alfa-L-iduronidase. Impaired enzyme activity promotes glycosaminoglycans accumulation in several tissues and organs, leading to complex multisystemic complications. Several studies using animal models indicated different intracellular pathways involving MPS I physiopathology; however, the exact mechanisms underlying this syndrome are still not understood. Previous results from our group showed alterations in ionic homeostasis and cell viability of splenocytes and macrophages in Idua-/- mice...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28211988/intrathecal-enzyme-replacement-therapy-reverses-cognitive-decline-in-mucopolysaccharidosis-type-i
#12
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah McNeil, Curtis Gravance, Elizabeth Maher
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207930/elevation-of-glycosaminoglycans-in-the-amniotic-fluid-of-a-fetus-with-mucopolysaccharidosis-vii
#13
Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W Mason, Pravin Patel, Maira G Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A Moreno, Denise P Cavalcanti, Roberto Giugliani, Shunji Tomatsu
OBJECTIVE: The aim of this study was to quantify GAGs in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry (LC/MS/MS), compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized panel...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207863/identification-of-age-dependent-motor-and-neuropsychological-behavioural-abnormalities-in-a-mouse-model-of-mucopolysaccharidosis-type-ii
#14
Hélène F E Gleitz, Claire O'Leary, Rebecca J Holley, Brian W Bigger
Severe mucopolysaccharidosis type II (MPS II) is a progressive lysosomal storage disease caused by mutations in the IDS gene, leading to a deficiency in the iduronate-2-sulfatase enzyme that is involved in heparan sulphate and dermatan sulphate catabolism. In constitutive form, MPS II is a multi-system disease characterised by progressive neurocognitive decline, severe skeletal abnormalities and hepatosplenomegaly. Although enzyme replacement therapy has been approved for treatment of peripheral organs, no therapy effectively treats the cognitive symptoms of the disease and novel therapies are in development to remediate this...
2017: PloS One
https://www.readbyqxmd.com/read/28196778/mucopolysaccharidoses-seen-in-adults-in-rheumatology
#15
Stéphane Mitrovic, Hélène Gouze, Laure Gossec, Thierry Schaeverbeke, Bruno Fautrel
Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. However, some of them have a more progressive presentation, with musculoskeletal symptoms at the forefront and a lifespan that nearly reaches that of the general population...
February 11, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#16
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28191355/morquio-s-syndrome-a-case-report-of-two-siblings
#17
Sathish Muthukumar Ramalingam, Daya Srinivasan, Sandhya ArunKumar, Joe Louis ChiriyanKandath, Sriram Kaliamoorthy
Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities. A diagnosis of mucopolysaccharidosis type IVA was reached based on the clinical, radiographic, and dental findings of the patients. The dental findings are useful diagnostic aid for the early diagnosis of this debilitating disorder.
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28186595/-analysis-of-ids-gene-mutation-in-a-family-affected-with-mucopolysaccharidosis-type%C3%A2
#18
Yiying Li, Shiyue Mei, Xiangdong Kong, Zhenhua Zhao, Xiaofan Zhu, Xinyu Yang, Zhi Qin, Han Wu
OBJECTIVE: To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ). METHODS: For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing. RESULTS: A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous. CONCLUSION: The c...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28181359/general-anesthesia-with-a-native-airway-for-patients-with-mucopolysaccharidosis-type-iii
#19
Mineto Kamata, Christopher McKee, Kristen V Truxal, Kevin M Flanigan, Kim L McBride, Shawn C Aylward, Joseph D Tobias, Marco Corridore
BACKGROUND: Mucopolysaccharidosis type III is a progressive disease with worsening airway, pulmonary, and cardiac involvement that may complicate anesthetic care. AIM: To prospectively evaluate the incidence of airway issues and complications during magnetic resonance imaging (MRI) and lumbar puncture (LP) during general anesthesia with a native airway for patients with mucopolysaccharidosis type III. METHOD: The study was a part of the natural history study...
February 8, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28171706/subregional-brain-distribution-of-simple-and-complex-glycosphingolipids-in-the-mucopolysaccharidosis-type-i-hurler-syndrome-mouse-impact-of-diet
#20
Jennifer T Saville, Hong Ngoc Thai, Rebecca J Lehmann, Ainslie L K Derrick-Roberts, Maria Fuller
Gangliosides are the most complex oligosaccharide-containing glycosphingolipids defined by the presence of sialic acid and although present in all tissues, predominate in the brain. Considering their importance in neural development, it is unsurprising that ganglioside metabolism is altered in neurodegenerative diseases. The severe form of mucopolysaccharidosis type I, Hurler syndrome (HS), is characterised by progressive loss of neuronal function through largely undefined mechanisms. Here we sought to interrogate brain gangliosides in a murine model of HS and further, assessed whether dietary modulation of lipid metabolism effected correction of the metabolic abnormalities...
February 7, 2017: Journal of Neurochemistry
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