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Lysosomal storage diseases

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https://www.readbyqxmd.com/read/29778854/proposed-stages-of-myocardial-phenotype-development-in-fabry-disease
#1
Sabrina Nordin, Rebecca Kozor, Katia Medina-Menacho, Amna Abdel-Gadir, Shanat Baig, Daniel M Sado, Ilaria Lobascio, Elaine Murphy, Robin H Lachmann, Atul Mehta, Nicola C Edwards, Uma Ramaswami, Richard P Steeds, Derralynn Hughes, James C Moon
OBJECTIVES: The authors sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis. BACKGROUND: Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. By cardiovascular magnetic resonance, native T1 is low in FD because of sphingolipid accumulation. METHODS: A prospective, observational study of 182 FD (167 adults, 15 children; mean age 42 ± 17 years, 37% male) who underwent cardiovascular magnetic resonance including native T1, late gadolinium enhancement (LGE), and extracellular volume fraction, 12-lead electrocardiogram, and blood biomarkers (troponin and N-terminal pro-brain natriuretic peptide)...
May 11, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#2
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29772816/alpha-mannosidosis-therapeutic-strategies
#3
REVIEW
Maria Rachele Ceccarini, Michela Codini, Carmela Conte, Federica Patria, Samuela Cataldi, Matteo Bertelli, Elisabetta Albi, Tommaso Beccari
Alpha-mannosidosis (α-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal α-d-mannosidase. So far, 155 variants from 191 patients have been identified and in part characterized at the biochemical level. Similarly to other lysosomal storage diseases, there is no relationship between genotype and phenotype in alpha-mannosidosis. Enzyme replacement therapy is at the moment the most effective therapy for lysosomal storage disease, including alpha-mannosidosis...
May 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29770442/current-concepts-in-the-neuropathogenesis-of-mucolipidosis-type-iv
#4
REVIEW
Lauren C Boudewyn, Steven U Walkley
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in the gene MCOLN1 encoding the transient receptor potential channel mucolipin-1. It is an ultra-rare disease and is currently known to affect just over 100 diagnosed individuals. The last decade has provided a wealth of research focused on understanding the role of the enigmatic mucolipin-1 protein in cell and brain function and how its absence causes disease...
May 16, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29757220/annexins-coordinators-of-cholesterol-homeostasis-in-endocytic-pathways
#5
REVIEW
Carles Rentero, Patricia Blanco-Muñoz, Elsa Meneses-Salas, Thomas Grewal, Carlos Enrich
The spatiotemporal regulation of calcium (Ca2+ ) storage in late endosomes (LE) and lysosomes (Lys) is increasingly recognized to influence a variety of membrane trafficking events, including endocytosis, exocytosis, and autophagy. Alterations in Ca2+ homeostasis within the LE/Lys compartment are implicated in human diseases, ranging from lysosomal storage diseases (LSDs) to neurodegeneration and cancer, and they correlate with changes in the membrane binding behaviour of Ca2+ -binding proteins. This also includes Annexins (AnxA), which is a family of Ca2+ -binding proteins participating in membrane traffic and tethering, microdomain organization, cytoskeleton interactions, Ca2+ signalling, and LE/Lys positioning...
May 12, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29755837/chagasic-cardiomyopathy-and-pompe-disease-case-report
#6
Rafael Ob de Morais, Ândrea V Chaves-Markman, Anna Pp Miranda, Ingrid G Amorim, Maria da Ga de M Cavalcanti, Manuel Markman, Brivaldo Markman-Filho
BACKGROUND: Pompe disease is a lysosomal storage disease with an autosomal recessive inheritance characterized by an insufficient activity of the acid alpha-glucosidase enzyme. The incidence varies from 1:40000 to 1:200000 live births and cardiac involvement in adults is rare. Chagas disease is an infection caused by the protozoan Trypanosoma cruzi, in which one-third of the cases progress to the chronic form, and may lead to cardiac involvement, usually from the fifth decade of life onwards...
2018: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/29752520/mucopolysaccharidoses-overview-of-neuroimaging-manifestations
#7
Manal Nicolas-Jilwan, Moeenaldeen AlSayed
The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe...
May 11, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29750678/ce-understanding-the-nurse-s-role-in-managing-gaucher-disease
#8
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
https://www.readbyqxmd.com/read/29750286/enzyme-replacement-therapy-a-review-and-its-role-in-treating-lysosomal-storage-diseases
#9
Mindy Li
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders caused by defects in lysosomal function that lead to multiorgan system damage. Due to wide clinical variability within even a single disorder, making a diagnosis can be difficult and identification may be delayed. Enzyme replacement therapy (ERT) was first approved as a treatment for the LSD Gaucher disease in 1991. ERT development for other LSDs followed, and ERT is currently approved for eight LSDs in the United States. ERT may help slow progression and improve clinical symptoms, but it cannot affect neurologic features due to its inability to cross the blood-brain barrier...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29750285/updates-in-newborn-screening
#10
Farrah Rajabi
Newborn screening in the United States is an important public health measure to provide early detection for specified disorders when early treatment is both possible and beneficial. As technology improves, newborn screening can be offered for many more conditions. In the past 10 years, screening has expanded to include severe combined immunodeficiency, congenital heart disease, lysosomal storage disease, and X-linked adrenoleukodystrophy. This article reviews the current state of newborn screening with updates on recent developments...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29749992/a-new-mutation-causing-severe-infantile-onset-pompe-disease-responsive-to-enzyme-replacement-therapy
#11
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar
Pompe disease (PD), also known as "glycogen storage disease type II (OMIM # 232300)" is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase ( GAA ) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme...
March 2018: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29748137/the-hidden-potential-of-lysosomal-ion-channels-a-new-era-of-oncogenes
#12
REVIEW
Andra M Sterea, Shekoufeh Almasi, Yassine El Hiani
Lysosomes serve as the control centre for cellular clearance. These membrane-bound organelles receive biomolecules destined for degradation from intracellular and extracellular pathways; thus, facilitating the production of energy and shaping the fate of the cell. At the base of their functionality are the lysosomal ion channels which mediate the function of the lysosome through the modulation of ion influx and efflux. Ion channels form pores in the membrane of lysosomes and allow the passage of ions, a seemingly simple task which harbours the potential of overthrowing the cell's stability...
March 10, 2018: Cell Calcium
https://www.readbyqxmd.com/read/29746864/drug-delivery-using-polyhistidine-peptide-modified-liposomes-that-target-the-endogenous-lysosome
#13
Taiki Hayashi, Matsumi Shinagawa, Tsuyoshi Kawano, Takashi Iwasaki
Cell-penetrating peptides (CPPs) can deliver payloads into cells by forming complexes with bioactive molecules via covalent or non-covalent bonds. Various CPPs have been applied in CPP-modified liposomes, and their effectiveness is highly regarded in liposomal drug delivery systems (DDSs). Previously, we have reported on the polyhistidine peptide (H16 peptide: HHHHHHHHHHHHHHHH-NH2 ) as a new CPP. The H16 peptide has a higher cell-penetrating capacity than well-known CPPs and delivers small molecules such as fluorescent dyes, bioactive peptides, and proteins into mammalian cells...
May 7, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29746165/a-lysosome-plasma-membrane-sphingolipid-axis-linking-lysosomal-storage-to-cell-growth-arrest
#14
Maura Samarani, Nicoletta Loberto, Giulia Soldà, Letizia Straniero, Rosanna Asselta, Stefano Duga, Giulia Lunghi, Fabio A Zucca, Laura Mauri, Maria Grazia Ciampa, Domitilla Schiumarini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Alessandro Prinetti, Massimo Aureli, Sandro Sonnino
Lysosomal accumulation of undegraded materials is a common feature of lysosomal storage diseases, neurodegenerative disorders, and the aging process. To better understand the role of lysosomal storage in the onset of cell damage, we used human fibroblasts loaded with sucrose as a model of lysosomal accumulation. Sucrose-loaded fibroblasts displayed increased lysosomal biogenesis followed by arrested cell proliferation. Notably, we found that reduced lysosomal catabolism and autophagy impairment led to an increase in sphingolipids ( i...
May 10, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29744576/the-lysosomal-function-of-progranulin-a-guardian-against-neurodegeneration
#15
REVIEW
Daniel H Paushter, Huan Du, Tuancheng Feng, Fenghua Hu
Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor implicated in a multitude of processes ranging from regulation of inflammation to wound healing and tumorigenesis. The clinical importance of PGRN became especially evident in 2006, when heterozygous mutations in the GRN gene, resulting in haploinsufficiency, were found to be one of the main causes of frontotemporal lobar degeneration (FTLD). FTLD is a clinically heterogenous disease that results in the progressive atrophy of the frontal and temporal lobes of the brain...
May 9, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29736354/morquio-syndrome-a-case-report
#16
Kamleshun Ramphul, Stephanie G Mejias, Yogeshwaree Ramphul-Sicharam
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio syndrome seen in a seven-year-old male from Iraq with multiple skeletal deformities.
March 5, 2018: Curēus
https://www.readbyqxmd.com/read/29735373/natural-history-of-echocardiographic-abnormalities-in-mucopolysaccharidosis-iii
#17
Carolyn M Wilhelm, Kristen V Truxal, Kim L McBride, John P Kovalchin, Kevin M Flanigan
BACKGROUND: Mucopolysaccharidosis (MPS) type III, Sanfilippo Syndrome, is an autosomal recessive lysosomal storage disorder. MPS I and II patients often develop cardiac involvement leading to early mortality, however there are limited data in MPS III. The objective of this study is to describe cardiac abnormalities in a large group of MPS III patients followed in a longitudinal natural history study designed to determine outcome measures for gene transfer trials. METHODS: A single center study of MPS III patients who were enrolled in the Nationwide Children's Hospital natural history study in 2014...
April 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29731497/lysosomal-acid-lipase-deficiency-in-japan-a-case-report-of-siblings-and-a-literature-review-of-cases-in-japan
#18
Naoyuki Ikari, Akira Shimizu, Takeshi Asano
We report on two siblings with early onset lysosomal acid lipase deficiency or Wolman disease. Their parents had a consanguineous marriage. The children showed evidence of abdominal distension and failed to thrive, despite having regular nutrition. At 3-4 months of age, their abdominal distension and jaundice progressed rapidly and they died of liver failure. Sebelipase alfa, a recombinant form of human lysosomal acid lipase has recently been used as an enzyme replacement therapy in patients with later-onset cholesteryl ester storage disease...
2018: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29721932/gene-therapy-approaches-to-treat-the-neurodegeneration-and-visual-failure-in-neuronal-ceroid-lipofuscinoses
#19
Sophia-Martha Kleine Holthaus, Alexander J Smith, Sara E Mole, Robin R Ali
Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, inherited lysosomal storage disorders mostly affecting the central nervous system of children. Symptoms include vision loss, seizures, motor deterioration and cognitive decline ultimately resulting in premature death. Studies in animal models showed that the diseases are amenable to gene supplementation therapies, and over the last decade, major advances have been made in the (pre)clinical development of these therapies. This mini-review summarises and discusses current gene therapy approaches for NCL targeting the brain and the eye...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29720879/fetal-chondrodysplasia-punctata-associated-with-maternal-autoimmune-diseases-a-review
#20
REVIEW
Hadeel Alrukban, David Chitayat
Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010...
2018: Application of Clinical Genetics
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