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Lysosomal storage disorders

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https://www.readbyqxmd.com/read/29161295/cardiac-and-renal-dysfunction-is-associated-with-progressive-hearing-loss-in-patients-with-fabry-disease
#1
Maria Köping, Wafaa Shehata-Dieler, Mario Cebulla, Kristen Rak, Daniel Oder, Jonas Müntze, Peter Nordbeck, Christoph Wanner, Rudolf Hagen, Sebastian Schraven
BACKGROUND: Fabry disease (FD) is an X-linked recessive hereditary lysosomal storage disorder which results in the accumulation of globotriaosylceramid (Gb3) in tissues of kidney and heart as well as central and peripheral nervous system. Besides prominent renal and cardiac organ involvement, cochlear symptoms like high-frequency hearing loss and tinnitus are frequently found with yet no comprehensive data available in the literature. OBJECTIVE: To examine hearing loss in patients with FD depending on cardiac and renal function...
2017: PloS One
https://www.readbyqxmd.com/read/29158997/presentation-and-treatments-for-mucopolysaccharidosis-type-ii-mps-ii-hunter-syndrome
#2
Molly Stapleton, Francyne Kubaski, Robert W Mason, Hiromasa Yabe, Yasuyuki Suzuki, Kenji E Orii, Tadao Orii, Shunji Tomatsu
Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive. Phenotypes are classified as either attenuated or severe (based on absence or presence of central nervous system impairment, respectively). Areas covered: Current treatments available are intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), anti-inflammatory treatment, and palliative care with symptomatic surgeries...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#3
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/29156730/generation-of-patient-specific-human-neural-stem-cells-from-niemann-pick-disease-type-c-patient-derived-fibroblasts
#4
Eun-Ah Sung, Kyung-Rok Yu, Ji-Hee Shin, Yoojin Seo, Hyung-Sik Kim, Myung Guen Koog, Insung Kang, Jae-Jun Kim, Byung-Chul Lee, Tae-Hoon Shin, Jin Young Lee, Seunghee Lee, Tae-Wook Kang, Soon Won Choi, Kyung-Sun Kang
Niemann-Pick disease type C (NPC) is a neurodegenerative and lysosomal lipid storage disorder, characterized by the abnormal accumulation of unesterified cholesterol and glycolipids, which is caused by mutations in the NPC1 genes. Here, we report the generation of human induced neural stem cells from NPC patient-derived fibroblasts (NPC-iNSCs) using only two reprogramming factors SOX2 and HMGA2 without going through the pluripotent state. NPC-iNSCs were stably expandable and differentiated into neurons, astrocytes, and oligodendrocytes...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29153846/surgical-management-of-neurological-manifestations-of-mucopolysaccharidosis-disorders
#5
REVIEW
Tord D Alden, Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R Harmatz, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment...
September 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#6
REVIEW
Maurizio Scarpa, Paul J Orchard, Angela Schulz, Patricia I Dickson, Mark E Haskins, Maria L Escolar, Roberto Giugliani
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease...
October 16, 2017: Molecular Genetics and Metabolism
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/29144277/newborn-screening-for-spinal-muscular-atrophy-and-lysosomal-storage-disorders-takes-advantage-of-novel-therapies
#9
EDITORIAL
Hans C Andersson
No abstract text is available yet for this article.
November 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#10
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
#11
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/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#12
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29119141/case-report-ursodeoxycholic-acid-treatment-in-niemann-pick-disease-type-c-clinical-experience-in-four-cases
#13
William R H Evans, Elena-Raluca Nicoli, Raymond Y Wang, Nina Movsesyan, Frances M Platt
In this case series, we demonstrate that Ursodeoxycholic acid (UDCA) improves liver dysfunction in Niemann-Pick type C (NPC) and may restore a suppressed cytochrome p450 system. NPC disease is a progressive neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Liver disease is a common feature presenting either acutely as cholestatic jaundice in the neonatal period, or in later life as elevated liver enzymes indicative of liver dysfunction. Recently, an imbalance in bile acid synthesis in a mouse model of NPC disease was linked to suppression of the P450 detoxification system and was corrected by UDCA treatment...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29118420/aav-mediated-transcription-factor-eb-tfeb-gene-delivery-ameliorates-muscle-pathology-and-function-in-the-murine-model-of-pompe-disease
#14
Francesca Gatto, Barbara Rossi, Antonietta Tarallo, Elena Polishchuk, Roman Polishchuk, Alessandra Carrella, Edoardo Nusco, Filomena Grazia Alvino, Francesca Iacobellis, Elvira De Leonibus, Alberto Auricchio, Graciana Diez-Roux, Andrea Ballabio, Giancarlo Parenti
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy. We previously showed that modulation of autophagy and lysosomal exocytosis by overexpression of the transcription factor EB (TFEB) gene was effective in improving muscle pathology in PD mice injected intramuscularly with an AAV-TFEB vector. Here we have evaluated the effects of TFEB systemic delivery on muscle pathology and on functional performance, a primary measure of efficacy in a disorder like PD...
November 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29111890/polyethylene-glycol-b-poly-lactic-acid-polymersomes-as-vehicles-for-enzyme-replacement-therapy
#15
Jessica M Kelly, Amanda L Gross, Douglas R Martin, Mark E Byrne
AIM: Polymersomes are created to deliver an enzyme-based therapy to the brain in lysosomal storage disease patients. MATERIALS & METHODS: Polymersomes are formed via the injection method using poly(ethylene glycol)-b-poly(lactic acid) (PEGPLA) and bound to apolipoprotein E, to create a brain-targeted delivery vehicle. RESULTS: Polymersomes have a smallest average diameter of 145 ± 21 nm and encapsulate β-galactosidase at 72.0 ± 12...
November 7, 2017: Nanomedicine
https://www.readbyqxmd.com/read/29111560/identification-of-a-novel-mutation-in-arsa-gene-in-three-patients-of-an-iranian-family-with-metachromatic-leukodystrophy-disorder
#16
Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-Asl
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients...
November 6, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29111092/quantitative-neuroimaging-in-mucopolysaccharidoses-clinical-trials
#17
REVIEW
Igor Nestrasil, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29101575/current-and-future-treatments-for-lysosomal-storage-disorders
#18
REVIEW
David P W Rastall, Andrea Amalfitano
Purpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel therapeutics including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy, and hematopoietic stem cell transplant (HSCT). This review summarizes recently approved drugs, then examines the successful clinical trials in gene therapy and HSCT. Recent findings The FDA has recently approved a second SRT by reversing an earlier FDA decision, suggesting a favorable regulatory landscape going forward...
November 4, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29099167/separation-and-analysis-of-lactosylceramide-galabiosylceramide-and-globotriaosylceramide-by-lc-ms-ms-in-urine-of-fabry-disease-patients
#19
Michel Boutin, Iskren Menkovic, Tristan Martineau, Vanessa Vaillancourt-Lavigueur, Amanda Toupin, Christiane Auray-Blais
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A (α-GAL A) deficiency. This enzyme contributes to the cellular recycling of glycosphingolipids such as galabiosylceramide (Ga2), globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) by hydrolysing the terminal alpha-galactosyl moiety. Urine and plasma α-GAL A substrates are currently analyzed as biomarkers for the detection, monitoring and follow-up of Fabry disease patients. The sensitivity of the analysis of Ga2 is decreased by the co-analysis of its structural isomer, lactosylceramide (LacCer), which is not an α-GAL A substrate...
November 3, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29098097/early-renal-involvement-in-a-girl-with-classic-fabry-disease
#20
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
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