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https://www.readbyqxmd.com/read/28820871/genetic-predisposition-to-fetal-alcohol-syndrome-association-with-congenital-disorders-of-n-glycosylation
#1
María E de la Morena-Barrio, María J Ballesta-Martínez, Raquel López-Gálvez, Ana I Antón, Vanessa López-González, Laia Martínez-Ribot, José Padilla, Antonia Miñano, Oscar García-Algar, Miguel Del Campo, Javier Corral, Encarna Guillén-Navarro, Vicente Vicente
BACKGROUND: Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy, although additional factors must be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS...
August 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#2
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28807751/a-novel-pmca3-mutation-in-an-ataxic-patient-with-hypomorphic-phosphomannomutase-2-pmm2-heterozygote-mutations-biochemical-characterization-of-the-pump-defect
#3
Mattia Vicario, Tito Calì, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J Lefeber, Enza Maria Valente, Enrico Bertini, Giuseppe Zanotti, Ginevra Zanni, Marisa Brini, Ernesto Carafoli
The neuron-restricted isoform 3 of the plasma membrane Ca(2+) ATPase plays a major role in the regulation of Ca(2+) homeostasis in the brain, where the precise control of Ca(2+) signaling is a necessity. Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. Interestingly, the presence of co-occurring mutations in additional genes suggest their synergistic action in generating the neurological phenotype as digenic modulators of the role of PMCA3 in the pathologies...
August 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28794993/limitations-of-galactose-therapy-in-phosphoglucomutase-1-deficiency
#4
Kristine Nolting, Julien H Park, Laura C Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
INTRODUCTION: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice. RESULTS: We report on a patient with a novel disease causing mutation, who was treated for 1...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#5
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#6
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28750948/mitochondrial-function-requires-ngly1
#7
Jianping Kong, Min Peng, Julian Ostrovsky, Young Joon Kwon, Olga Oretsky, Elizabeth M McCormick, Miao He, Yair Argon, Marni J Falk
Mitochondrial respiratory chain (RC) diseases and congenital disorders of glycosylation (CDG) share extensive clinical overlap but are considered to have distinct cellular pathophysiology. Here, we demonstrate that an essential physiologic connection exists between cellular N-linked deglycosylation capacity and mitochondrial function. Following identification of altered muscle and liver mitochondrial amount and function in two children with a CDG subtype caused by NGLY1 deficiency, we evaluated mitochondrial physiology in NGLY1 disease human fibroblasts, and in NGLY1-knockout mouse embryonic fibroblasts and C...
July 25, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28743912/structural-basis-for-dolichylphosphate-mannose-biosynthesis
#8
Rosaria Gandini, Tom Reichenbach, Tien-Chye Tan, Christina Divne
Protein glycosylation is a critical protein modification. In biogenic membranes of eukaryotes and archaea, these reactions require activated mannose in the form of the lipid conjugate dolichylphosphate mannose (Dol-P-Man). The membrane protein dolichylphosphate mannose synthase (DPMS) catalyzes the reaction whereby mannose is transferred from GDP-mannose to the dolichol carrier Dol-P, to yield Dol-P-Man. Failure to produce or utilize Dol-P-Man compromises organism viability, and in humans, several mutations in the human dpm1 gene lead to congenital disorders of glycosylation (CDG)...
July 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28742265/congenital-disorders-of-glycosylation-the-saudi-experience
#9
Sarah Alsubhi, Amal Alhashem, Eissa Faqeih, Majid Alfadhel, Abdullah Alfaifi, Waleed Altuwaijri, Saud Alsahli, Hesham Aldhalaan, Fowzan S Alkuraya, Khalid Hundallah, Adel Mahmoud, Ali Alasmari, Fuad Al Mutairi, Hanem Abduraouf, Layan AlRasheed, Saad Alshahwan, Brahim Tabarki
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#10
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G Bönnemann, Richard J Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner
OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. RESULTS: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28728943/production-and-biophysical-characterization-of-a-mini-membrane-protein-ost4v23d-a-functionally-important-mutant-of-yeast-oligosaccharyltransferase-subunit-ost4p
#11
Bharat Chaudhary, Suman Mazumder, Smita Mohanty
N-linked glycosylation of proteins is an essential and highly conserved co- and post-translational protein modification reaction that occurs in all eukaryotes. Oligosaccharyltransferase (OST), a multi-subunit membrane-associated enzyme complex, carries out this reaction. In the central reaction, a carbohydrate group is transferred to the side chain of a consensus asparagine residue in the newly synthesized protein. Genetic defects in humans cause a series of disorders known as congenital disorders of glycosylation (CDG) that include mental retardation, developmental delay, hypoglycemia etc...
July 18, 2017: Protein Expression and Purification
https://www.readbyqxmd.com/read/28726068/cardiac-complications-of-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#12
REVIEW
D Marques-da-Silva, R Francisco, D Webster, V Dos Reis Ferreira, J Jaeken, T Pulinilkunnil
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways...
July 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28685491/the-prevalence-of-pmm2-cdg-in-estonia-based-on-population-carrier-frequencies-and-diagnosed-patients
#13
Mari-Anne Vals, Sander Pajusalu, Mart Kals, Reedik Mägi, Katrin Õunap
PMM2-CDG (MIM#212065) is the most common type of congenital disorders of glycosylation (CDG) caused by mutations in PMM2 (MIM#601785). In Estonia, five patients from three families have been diagnosed with PMM2-CDG. Our aim was to evaluate the presence of different PMM2-CDG-causing mutations in a population-based cohort and to calculate the expected frequency of PMM2-CDG in Estonia. Also, we analyzed the prevalence of PMM2-CDG based on our patient group data. To calculate the expected frequency of PMM2-CDG, we used the whole genome sequencing data of 2,244 participants from biobank of the Estonian Genome Center, University of Tartu...
July 7, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28674082/intratumoral-sting-activation-with-t-cell-checkpoint-modulation-generates-systemic-antitumor-immunity
#14
Casey R Ager, Matthew J Reilley, Courtney Nicholas, Todd Bartkowiak, Ashvin R Jaiswal, Michael A Curran
Coordinated manipulation of independent immune regulatory pathways in the tumor microenvironment-including blockade of T-cell checkpoint receptors and reversal of suppressive myeloid programs-can render aggressive cancers susceptible to immune rejection. Elevated toxicity associated with combination immunotherapy, however, prevents translation of the most efficacious regimens. We evaluated T-cell checkpoint-modulating antibodies targeting CTLA-4, PD-1, and 4-1BB together with myeloid agonists targeting either STING or Flt3 in the TRAMP-C2 model of prostate cancer to determine whether low-dose intratumoral delivery of these agents could elicit systemic control of multifocal disease...
August 2017: Cancer Immunology Research
https://www.readbyqxmd.com/read/28671287/protein-misfolding-diseases-prospects-of-pharmacological-treatment
#15
REVIEW
Alejandra Gámez, Patricia Yuste-Checa, Sandra Brasil, Álvaro Briso-Montiano, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Protein misfolding has been linked to numerous inherited diseases. Loss- and gain-of-function mutations (common features of genetic diseases) may cause the destabilization of proteins, leading to alterations in their properties and/or cellular location, resulting in their incorrect functioning. Misfolded proteins can, however, be rescued via the use of proteostasis regulators and/or pharmacological chaperones, suggesting that treatments with small molecules might be developed for a range of genetic diseases...
July 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28662078/dpagt1-cdg-functional-analysis-of-disease-causing-pathogenic-mutations-and-role-of-endoplasmic-reticulum-stress
#16
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferase (GPT), the protein encoded by DPAGT1, is an endoplasmic reticulum (ER)-resident protein involved in an initial step in the N-glycosylation pathway. The aim of the present study was to examine the effect of six variants in DPAGT1 detected in patients with DPAGT1-CDG, and the role of endoplasmic reticulum stress, as part of the search for therapeutic strategies to use against DPAGT1-CDG...
2017: PloS One
https://www.readbyqxmd.com/read/28653174/erratum-to-what-is-new-in-cdg
#17
Jaak Jaeken, Romain Péanne
No abstract text is available yet for this article.
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28643274/an-unexplained-congenital-disorder-of-glycosylation-ii-in-a-child-with-neurohepatic-involvement-hypercholesterolemia-and-hypoceruloplasminemia
#18
Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B Cefalù, Luisella Sturiale, Domenico Garozzo, Dirk J Lefeber, Jaak Jaeken
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect...
June 23, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#19
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28617415/oral-d-galactose-supplementation-in-pgm1-cdg
#20
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, Tomas Honzik, Hana Hansikova, Katja S Brocke Holmefjord, Marit Mork, Francis Bowling, Jolanta Sykut-Cegielska, Dieter Koch, Jozef Hertecant, Graeme Preston, Jaak Jaeken, Nicole Peeters, Stefanie Perez, David Do Nguyen, Kea Crivelly, Tim Emmerzaal, K Michael Gibson, Kimiyo Raymond, Nurulamin Abu Bakar, Francois Foulquier, Gernot Poschet, Amanda M Ackermann, Miao He, Dirk J Lefeber, Christian Thiel, Tamas Kozicz, Eva Morava
PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-gal) showed clinical improvement. So far no systematic in vitro and clinical studies have assessed safety and benefits of D-gal supplementation. In a prospective pilot study, we evaluated the effects of oral D-gal in nine patients.MethodsD-gal supplementation was increased to 1.5 g/kg/day (maximum 50 g/day) in three increments over 18 weeks...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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