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Gauchers disease

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https://www.readbyqxmd.com/read/29211351/application-of-fourier-transform-infrared-spectroscopy-to-biomolecular-profiling-of-cultured-fibroblast-cells-from-gaucher-disease-patients-a-preliminary-investigation
#1
Nasit Igci, Parisa Sharafi, Duygu Ozel Demiralp, Cemil Ozerk Demiralp, Aysel Yuce, Serap Dokmeci Emre
BACKGROUND: Gaucher disease (GD) is defined as an autosomal recessive disorder resulting from the deficiency of glucocerebrosidase (E.C. 3.2.1.45). Glucocerebrosidase is responsible for the degradation of glucosylceramide into ceramide and glucose. The deficiency of this enzyme results in the accumulation of undegraded glucosylceramide, almost exclusively in macrophages. With Fourier transform infrared (FTIR) spectroscopy, the complete molecular diversity of the samples can be studied comparatively and the amount of the particular materials can be determined...
October 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29207722/thalassaemia-trait-with-gaucher-disease-a-diagnostic-dilemma
#2
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hence, their coexistence causes diagnostic dilemma. Our patient presented at one-and-a-half years with weakness, pallor, failure to thrive and massive hepatosplenomegaly. Clinical examination and history pointed to a lipid storage disease...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29199275/lysosomal-integral-membrane-protein-2-as-a-phospholipid-receptor-revealed-by-biophysical-and-cellular-studies
#3
Karen S Conrad, Ting-Wen Cheng, Daniel Ysselstein, Saskia Heybrock, Lise R Hoth, Boris A Chrunyk, Christopher W Am Ende, Dimitri Krainc, Michael Schwake, Paul Saftig, Shenping Liu, Xiayang Qiu, Michael D Ehlers
Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) contributes to endosomal and lysosomal function. LIMP-2 deficiency is associated with neurological abnormalities and kidney failure and, as an acid glucocerebrosidase receptor, impacts Gaucher and Parkinson's diseases. Here we report a crystal structure of a LIMP-2 luminal domain dimer with bound cholesterol and phosphatidylcholine. Binding of these lipids alters LIMP-2 from functioning as a glucocerebrosidase-binding monomer toward a dimeric state that preferentially binds anionic phosphatidylserine over neutral phosphatidylcholine...
December 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/29198828/altered-differentiation-potential-of-gaucher-s-disease-ipsc-neuronal-progenitors-due-to-wnt-%C3%AE-catenin-downregulation
#4
Ola Awad, Leelamma M Panicker, Rania M Deranieh, Manasa P Srikanth, Robert A Brown, Antanina Voit, Tejasvi Peesay, Tea Soon Park, Elias T Zambidis, Ricardo A Feldman
Gaucher's disease (GD) is an autosomal recessive disorder caused by mutations in the GBA1 gene, which encodes acid β-glucocerebrosidase (GCase). Severe GBA1 mutations cause neuropathology that manifests soon after birth, suggesting that GCase deficiency interferes with neuronal development. We found that neuronopathic GD induced pluripotent stem cell (iPSC)-derived neuronal progenitor cells (NPCs) exhibit developmental defects due to downregulation of canonical Wnt/β-catenin signaling and that GD iPSCs' ability to differentiate to dopaminergic (DA) neurons was strikingly reduced due to early loss of DA progenitors...
November 27, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29173981/glucocerebrosidase-haploinsufficiency-in-a53t-%C3%AE-synuclein-mice-impacts-disease-onset-and-course
#5
Nahid Tayebi, Loukia Parisiadou, Bahafta Berhe, Ashley N Gonzalez, Jenny Serra-Vinardell, Raphael J Tamargo, Emerson Maniwang, Zachary Sorrentino, Hideji Fujiwara, Richard J Grey, Shahzeb Hassan, Yotam N Blech-Hermoni, Chuyu Chen, Ryan McGlinchey, Chrissy Makariou-Pikis, Mieu Brooks, Edward I Ginns, Daniel S Ory, Benoit I Giasson, Ellen Sidransky
Mutations in GBA1 encountered in Gaucher disease are a leading risk factor for Parkinson disease and associated Lewy body disorders. Many GBA1 mutation carriers, especially those with severe or null GBA1 alleles, have earlier and more progressive parkinsonism. To model the effect of partial glucocerebrosidase deficiency on neurological progression in vivo, mice with a human A53T α-synuclein (SNCAA53T) transgene were crossed with heterozygous null gba mice (gba+/-). Survival analysis of 84 mice showed that in gba+/-//SNCAA53T hemizygotes and homozygotes, the symptom onset was significantly earlier than in gba+/+//SNCAA53T mice (p-values 0...
November 21, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29171474/-progressive-pulmonary-hypertension-in-a-patient-with-type-1-gaucher-disease
#6
R V Ponomarev, S V Model, O M Averbukh, A M Gavrilov, G M Galstyan, E A Lukina
Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease - the development of pneumosclerosis due to macrophage dysfunction...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#7
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29147032/emptying-the-stores-lysosomal-diseases-and-therapeutic-strategies
#8
REVIEW
Frances M Platt
Lysosomal storage disorders (LSDs) - designated as 'orphan' diseases - are inborn errors of metabolism caused by defects in genes that encode proteins involved in various aspects of lysosomal homeostasis. For many years, LSDs were viewed as unattractive targets for the development of therapies owing to their low prevalence. However, the development and success of the first commercial biologic therapy for an LSD - enzyme replacement therapy for type 1 Gaucher disease - coupled with regulatory incentives rapidly catalysed commercial interest in therapeutically targeting LSDs...
November 17, 2017: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#9
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29140481/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s-disease
#10
Laurie A Robak, Iris E Jansen, Jeroen van Rooij, André G Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua M Shulman
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk...
November 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29137040/a-multicenter-open-label-phase-iii-study-of-abcertin-in-gaucher-disease
#11
Beom Hee Lee, Ahmed Fathy Abdalla, Jin-Ho Choi, Amal El Beshlawy, Gu-Hwan Kim, Sun Hee Heo, Ahmed Megahed Hassan Megahed, Mona Abdel Latif Elsayed, Tarik El-Sayed Mohammad Barakat, Khaled Mohamed Abd El-Azim Eid, Mona Hassan El-Tagui, Mona Mohamed Hamdy Mahmoud, Ekram Fateen, June-Young Park, Han-Wook Yoo
BACKGROUND: Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement. METHODS: The efficacy and safety of a new imiglucerase, Abcertin, were assessed in 7 Egyptian patients with treatment-naïve type 1 GD. Each patient was administered a biweekly 60 U/kg dose of Abcertin for 6 months. The primary endpoint was the change in hemoglobin concentration. The secondary endpoints were changes from baseline in platelet counts, spleen and liver volumes, biomarker levels, skeletal parameters, and bone mineral density...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29135986/splenomegaly-diagnostic-validity-work-up-and-underlying-causes
#12
Emelie Curovic Rotbain, Dennis Lund Hansen, Ove Schaffalitzky de Muckadell, Flemming Wibrand, Allan Meldgaard Lund, Henrik Frederiksen
PURPOSE: Our aim was to assess the validity of the ICD-10 code for splenomegaly in the Danish National Registry of Patients (DNRP), as well as to investigate which underlying diseases explained the observed splenomegaly. BACKGROUND: Splenomegaly is a common finding in patients referred to an internal medical department and can be caused by a large spectrum of diseases, including haematological diseases and liver cirrhosis. However, some patients remain without a causal diagnosis, despite extensive medical work-up...
2017: PloS One
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#13
REVIEW
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29100779/tandem-mass-spectrometry-assay-of-%C3%AE-glucocerebrosidase-activity-in-dried-blood-spots-eliminates-false-positives-detected-in-fluorescence-assay
#14
Pavlina Wolf, Roy N Alcalay, Christopher Liong, Emmaline Cullen, Michael W Pauciulo, William C Nichols, Ziv Gan-Or, Wendy K Chung, Tina Faulkner, Christopher Bentis, Robert J Pomponio, Xiwen Ma, X Kate Zhang, Joan M Keutzer, Petra Oliva
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the tandem mass spectrometry (MS/MS) and fluorescence assays and their respective synthetic substrates. The MS/MS assay differentiated normal controls, which included GBA mutation carriers, from GD patients with no overlap...
October 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29091352/type-2-gaucher-disease-in-an-infant-despite-a-normal-maternal-glucocerebrosidase-gene
#15
Ermias Hagege, Richard J Grey, Grisel Lopez, Tamanna Roshan Lal, Ellen Sidransky, Nahid Tayebi
Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) arose by either maternal germline mosaicism or as a de novo mutation. This is the first time mutation Gly202Arg has been reported to be inherited non-traditionally. This report is part of a growing literature suggesting that GD can be inherited via germline or de novo mutations, and emphasizes that it is critical for clinicians to consider such inheritance when making diagnostic decisions or providing genetic counseling...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29090476/demographics-and-patient-characteristics-of-1209-patients-with-gaucher-disease-descriptive-analysis-from-the-gaucher-outcome-survey-gos
#16
Ari Zimran, Nadia Belmatoug, Bruno Bembi, Patrick Deegan, Deborah Elstein, Diego Fernandez-Sasso, Pilar Giraldo, Ozlem Goker-Alpan, Heather Lau, Elena Lukina, Zoya Panahloo, Ida Vanessa D Schwartz
The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long-term effectiveness of velaglucerase alfa and other GD-related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy...
November 1, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29064079/molecular-mechanisms-of-%C3%AE-synuclein-and-gba1-in-parkinson-s-disease
#17
REVIEW
Iva Stojkovska, Dimitri Krainc, Joseph R Mazzulli
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized pathologically by the presence of Lewy bodies comprised of insoluble alpha (α)-synuclein. Pathological, clinical and genetic studies demonstrate that mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase) that is deficient in Gaucher's disease, are important risk factors for the development of PD. The molecular mechanism for the association between these two diseases is not completely understood...
October 24, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/29061473/optimization-of-ultra-high-pressure-liquid-chromatography-tandem-mass-spectrometry-determination-in-plasma-and-red-blood-cells-of-four-sphingolipids-and-their-evaluation-as-biomarker-candidates-of-gaucher-s-disease
#18
Caroline Chipeaux, Marine de Person, Nathalie Burguet, Thierry Billette de Villemeur, Christian Rose, Nadia Belmatoug, Sylvie Héron, Caroline Le Van Kim, Mélanie Franco, Fathi Moussa
While important advances have been recently achieved in the optimization of lipid classes' separation, information on the specific determination of medium polarity lipids such as sphingolipids (SLs) in highly complex matrices remains fragmentary. In human, disorders of SL metabolism known as sphingolipidoses are a heterogeneous group of inherited disorders affecting primarily the central nervous. Early diagnosis of these conditions is of importance notably when a corrective therapy is available. The diagnosis is generally based on the determination of specific SLs in plasma and red blood cells (RBCs)...
October 14, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/29053611/glucosylsphingosine-causes-hematological-and-visceral-changes-in-mice-evidence-for-a-pathophysiological-role-in-gaucher-disease
#19
Jan Lukas, Claudia Cozma, Fan Yang, Guido Kramp, Anja Meyer, Anna-Maria Neßlauer, Sabrina Eichler, Tobias Böttcher, Martin Witt, Anja U Bräuer, Peter Kropp, Arndt Rolfs
Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The build-up of glucosylceramide in the endoplasmic reticulum and prominent accumulation in cell lysosomes of tissue macrophages results in decreased blood cell and platelet counts, and skeletal abnormalities. The pathological role of the deacylated form of glucosylceramide, glucosylsphingosine (lyso-Gb1), a recently identified sensitive and specific biomarker for GD, is not well investigated...
October 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29044482/hematopoietic-stem-cell-transplantation-for-gaucher-disease
#20
REVIEW
Usha R Somaraju, Krishna Tadepalli
BACKGROUND: Gaucher disease is the most common lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Current treatment of the disease involves a choice from enzyme replacement therapy, substrate reduction therapy and hemotopoietic stem cell transplantation (HSCT). HSCT is a high risk procedure with possible long-term benefits in the regression of skeletal and neurological changes in people with Gaucher disease. This is an update of a previously published Cochrane Review...
October 18, 2017: Cochrane Database of Systematic Reviews
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