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Lysosomal storage disorders

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https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#1
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28225726/computer-assisted-retinal-vessel-tortuosity-evaluation-in-novel-mutation-fabry-disease-towards-new-prognostic-markers
#2
Irene San Román, María-Elena Rodríguez, Orsola Caporossi, Claudia Zoppetti, Andrea Sodi, Alessandro Mecocci, David López, Beatriz Rodríguez, Juan-Ramón Gimeno
PURPOSE: Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. METHODS: Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index...
March 2017: Retina
https://www.readbyqxmd.com/read/28224082/clinical-characteristics-of-adult-patients-with-inborn-errors-of-metabolism-in-spain-a-review-of-500-cases-from-university-hospitals
#3
J Pérez-López, L Ceberio-Hualde, J S García-Morillo, J M Grau-Junyent, A Hermida Ameijeiras, M López-Rodríguez, J C Milisenda, M Moltó Abad, M Morales-Conejo, J J Nava Mateos
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#4
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28215668/potential-of-surfactant-coated-nanoparticles-to-improve-brain-delivery-of-arylsulfatase-a
#5
Tilman Schuster, Astrid Mühlstein, Claudia Yaghootfam, Olga Maksimenko, Elena Shipulo, Svetlana Gelperina, Jörg Kreuter, Volkmar Gieselmann, Ulrich Matzner
The lysosomal storage disorder (LSD) metachromatic leukodystrophy (MLD) is caused by a deficiency of the soluble, lysosomal hydrolase arylsulfatase A (ASA). The disease is characterized by accumulation of 3-O-sulfogalactosylceramide (sulfatide), progressive demyelination of the nervous system and premature death. Enzyme replacement therapy (ERT), based on regular intravenous injections of recombinant functional enzyme, is in clinical use for several LSDs. For MLD and other LSDs with central nervous system (CNS) involvement, however, ERT is limited by the blood-brain barrier (BBB) restricting transport of therapeutic enzymes from the blood to the brain...
February 16, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28213849/widespread-expression-of-a-membrane-tethered-version-of-the-soluble-lysosomal-enzyme-palmitoyl-protein-thioesterase-1
#6
Charles Shyng, Shannon L Macauley, Joshua T Dearborn, Mark S Sands
"Cross-correction," the transfer of soluble lysosomal enzymes between neighboring cells, forms the foundation for therapeutics of lysosomal storage disorders (LSDs). However, "cross-correction" poses a significant barrier to studying the role of specific cell types in LSD pathogenesis. By expressing the native enzyme in only one cell type, neighboring cell types are invariably corrected. In this study, we present a strategy to limit "cross-correction" of palmitoyl-protein thioesterase-1(PPT1), a lysosomal hydrolase deficient in Infantile Neuronal Ceroid Lipofuscinosis (INCL, Infantile Batten disease) to the lysosomal membrane via the C-terminus of lysosomal associated membrane protein-1 (LAMP1)...
February 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28205169/quantitative-measurement-of-cholesterol-in-cell-populations-using-flow-cytometry-and-fluorescent-perfringolysin-o
#7
Jian Li, Peter L Lee, Suzanne R Pfeffer
Methods to quantify intracellular cholesterol are valuable for the study of its trafficking and storage in normal cells and in lysosomal storage disorders. Traditionally, cholesterol has been tracked using the small molecule, filipin. Filipin can be difficult to visualize and visualization can be cytotoxic as it requires UV illumination. Here we describe a method to measure cholesterol using a fluorescently labeled, mutant form of Perfringolysin O, a soluble protein toxin that binds cholesterol specifically...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28199020/gemfibrozil-food-and-drug-administration-approved-lipid-lowering-drug-increases-longevity-in-mouse-model-of-late-infantile-neuronal-ceroid-lipofuscinosis
#8
Arunava Ghosh, Suresh Babu Rangasamy, Khushbu K Modi, Kalipada Pahan
Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme. TPP1 deficiency is known to cause the accumulation of autofluoroscent lipid-protein pigments in brain. Similar to other neurodegenerative disorders, LINCL is also associated with neuroinflammation and neuronal damage. Despite investigations, no effective therapy is currently available for LINCL...
February 15, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#9
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28197106/inhibition-of-intermediate-conductance-calcium-activated-k-channel-kca3-1-and-fibroblast-mitogenesis-by-%C3%AE-linolenic-acid-and-alterations-of-channel-expression-in-the-lysosomal-storage-disorders-fabry-disease-and-niemann-pick-c
#10
Aida Oliván-Viguera, Javier Lozano-Gerona, Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Edgar Abarca-Lachen, Ana J García-Malinis, Ángel Luis García-Otín, Yolanda Gilaberte, Pilar Giraldo, Ralf Köhler
The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K(+)-efflux, cell volume, and membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). In the first part of present study, we characterize KCa3.1 in murine and human fibroblasts and test the impact of omega-3 fatty acids on fibroblast proliferation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28196920/liquid-chromatography-tandem-mass-spectrometry-assay-of-leukocyte-acid-%C3%AE-glucosidase-for-post-newborn-screening-evaluation-of-pompe-disease
#11
Na Lin, Jingyu Huang, Sara Violante, Joseph J Orsini, Michele Caggana, Erin E Hughes, Colleen Stevens, Lisa DiAntonio, Hsuan Chieh Liao, Xinying Hong, Farideh Ghomashchi, Arun Babu Kumar, Hui Zhou, Ruth Kornreich, Melissa Wasserstein, Michael H Gelb, Chunli Yu
BACKGROUND: Pompe disease (PD) is the first lysosomal storage disorder to be added to the Recommended Uniform Screening Panel for newborn screening. This condition has a broad phenotypic spectrum, ranging from an infantile form (IOPD), with severe morbidity and mortality in infancy, to a late-onset form (LOPD) with variable onset and progressive weakness and respiratory failure. Because the prognosis and treatment options are different for IOPD and LOPD, it is important to accurately determine an individual's phenotype...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28196778/mucopolysaccharidoses-seen-in-adults-in-rheumatology
#12
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/28193631/histone-deacetylase-inhibitors-correct-the-cholesterol-storage-defect-in-most-npc1-mutant-cells
#13
Nina H Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M Hutt, Samantha M Scott, William E Balch, Frederick R Maxfield
Niemann Pick C disease (NPC) is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes. The large majority of NPC disease is caused by mutations in NPC1, a large polytopic membrane protein that functions in late endosomes. There are many disease-associated mutations in NPC1, and most patients are compound heterozygotes. The most common mutation NPC1I1061T has been shown to cause endoplasmic reticulum associated degradation of the NPC1 protein...
February 13, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28191355/morquio-s-syndrome-a-case-report-of-two-siblings
#14
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/28187749/identification-of-a-large-intronic-transposal-insertion-in-slc17a5-causing-sialic-acid-storage-disease
#15
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, Colin J D Ross, Ans M W van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D M van Karnebeek, Maria Blomqvist
BACKGROUND: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Hypomyelination and corpus callosum hypoplasia are typical as well...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28180027/newborn-screening-for-lysosomal-storage-disorders
#16
REVIEW
Roy W A Peake, Olaf A Bodamer
Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditions continues to expand due to advances in screening technologies and the development of novel therapies. Consequently, some of the lysosomal storage disorders are now considered as candidates for newborn screening, although many challenges including identification of late-onset phenotypes remain...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28148276/evolution-of-structural-neuroimaging-biomarkers-in-a-series-of-adult-patients-with-niemann-pick-type-c-under-treatment
#17
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud, Fanny Mochel
BACKGROUND: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy with miglustat is now used in almost all patients, its efficacy and the course of the disease are sometimes difficult to evaluate. Neuroimaging biomarkers could prove useful in this matter. We first performed a retrospective analysis of volumetric and diffusion tensor imaging (DTI) data on 13 adult NPC patients compared to 13 controls of similar age and sex...
February 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28132521/direct-intracranial-injection-of-aavrh8-encoding-monkey-%C3%AE-n-acetylhexosaminidase-causes-neurotoxicity-in-primate-brain
#18
Diane Golebiowski, Imramsjah Martijn J van der Bom, Churl-Su Kwon, Andrew D Miller, Keiko Petrosky, Allison M Bradbury, Stacy Maitland, Anna Luisa Kühn, Nina Bishop, Elizabeth Curran, Nilsa Silva, Dwijit GuhaSarkar, Susan V Westmoreland, Douglas R Martin, Matthew J Gounis, Wael F Asaad, Miguel Sena-Esteves
GM2 gangliosidoses, including Tay-Sachs disease (TSD) and Sandhoff disease (SD), are lysosomal storage disorders caused by deficiencies in β-N-acetylhexosaminidase (Hex). Patients are afflicted primarily with progressive central nervous system dysfunction (CNS). Studies in mice, cats, and sheep have indicated safety and widespread distribution of Hex in the CNS after intracranial vector infusion of AAVrh8 vectors encoding species-specific Hex α- or β-subunits at a 1:1 ratio. Here we conducted a safety study in cynomolgus macaques (cm) modeling our previous animal studies with bilateral infusion in the thalamus as well as in left lateral ventricle of AAVrh8 vectors encoding cm Hex α- and β-subunits...
January 28, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28130415/neu1-sialidase-controls-gene-expression-and-secretion-of-il-6-and-mcp-1through-nf-%C3%AE%C2%BAb-pathway-in-3t3-l1-adipocytes
#19
Yujin Natori, Miwako Nasui, Kiyoto Edo, Shogo Sato, Takuya Sakurai, Takako Kizaki, Fumiko Kihara-Negishi
A sialidase NEU1 that removes sialic acids from glycoconjugates has been implicated in diverse cellular functions. Aberrant NEU1 activity is associated with various pathologies including lysosomal storage disorder (LSD) sialidosis, autoimmune diseases and the malignancy and metastasis of cancer cells. We recently reported that NEU1 activity increases during 3T3-L1 adipogenesis and that it is higher in the epididymal fat of obese and diabetic mice. However, the precise functions of NEU1 in adipocytes have not been elucidated...
January 27, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/28128446/advanced-glycation-end-products-age-potentiates-cell-death-in-p53-negative-cells-via-upregulaion-of-nf-kappa-b-and-impairment-of-autophagy
#20
Neeharika Verma, Sunil K Manna
Accumulation of advanced glycation end products (AGE) in diabetic patients and ageing people due to excess availability of simple 3- or 4-carbon sugars, is well-known. AGE has multiple deleterious effects including age-related disorders, apoptosis, inflammation and obesity. We have found that AGE increases autophagy but the sustained amount of autophagosomes is observed till 3 days without maturation. It is important to understand the underlying mechanism of AGE-mediated signaling responsible for impairment of autophagy and its correlation to the induction of several adverse effects...
January 27, 2017: Journal of Cellular Physiology
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