scholarly journals Fisiologie en patofísiologie van selorganelle

1997 ◽  
Vol 16 (2) ◽  
pp. 56-64
Author(s):  
J. J. Theron ◽  
N. Claasen ◽  
A. Panzer
Keyword(s):  
Chemical Nature ◽  
Lysosomal Storage Diseases ◽  
Congenital Absence ◽  
Specific Substrate ◽  
Lysosomal Storage ◽  
Lysosomal Hydrolases ◽  
Storage Diseases ◽  
Clinical Syndromes ◽  
Different Types ◽  
Hydrolysis Of

Congenital absence of one or more lysosomal hydrolases results in accumulation of the relevant substrate and development of the so- called lysosomal storage diseases (LSD). Approximately 22 different types of LSD are known, which are divided into three groups according to the chemical nature of the specific substrate: sphingolipidoses, mucopolvsaccharridoses (defective hydrolysis of glycosaminoglycans) and glycoproteinoses. Other lysosomal clinical syndromes may result from defects in the biogenesis of the organelle or abnormalities in transport of metabolites across the lysosomal membrane.

Innate immune responses in the brain of sphingolipid lysosomal storage diseases

2015 ◽  
Vol 396 (6-7) ◽  
pp. 659-667 ◽  
Author(s):  
Einat B. Vitner ◽  
Anthony H. Futerman ◽  
Nick Platt
Keyword(s):  
Lysosomal Storage Diseases ◽  
Sandhoff Disease ◽  
Innate Immune ◽  
Innate Immune Responses ◽  
Lysosomal Storage ◽  
Lysosomal Hydrolases ◽  
Storage Diseases ◽  
Niemann Pick ◽  
The Brain

Abstract Lysosomal storage diseases (LSDs) are mainly caused by the defective activity of lysosomal hydrolases. A sub-class of LSDs are the sphingolipidoses, in which sphingolipids accumulate intra-cellularly. We here discuss the role of innate immunity in the sphingolipidoses, and compare the pathways of activation in two classical sphingolipidoses, namely Gaucher disease and Sandhoff disease, and in Niemann-Pick C disease, in which the main storage material is cholesterol but sphingolipids also accumulate. We discuss the mechanisms leading to neuroinflammation, and the different pathways of neuroinflammation in the different diseases, and suggest that intervention in these pathways may be a useful therapeutic approach to address these devastating human diseases.

Lysosomal Glycosphingolipid Storage Diseases

2019 ◽  
Vol 88 (1) ◽  
pp. 461-485 ◽  
Author(s):  
Bernadette Breiden ◽  
Konrad Sandhoff
Keyword(s):  
Plasma Membranes ◽  
Secretory Pathway ◽  
Lysosomal Storage Diseases ◽  
Lipid Binding ◽  
Lysosomal Storage ◽  
Lysosomal Hydrolases ◽  
Hydrophobic Membrane ◽  
Storage Diseases ◽  
Storage Compounds ◽  
Outer Leaflet

Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid–containing glycosphingolipids, are especially enriched on neuronal surfaces. As amphi-philic molecules, they comprise a hydrophilic oligosaccharide chain attached to a hydrophobic membrane anchor, ceramide. Whereas glycosphingolipid formation is catalyzed by membrane-bound enzymes along the secretory pathway, degradation takes place at the surface of intralysosomal vesicles of late endosomes and lysosomes catalyzed in a stepwise fashion by soluble hydrolases and assisted by small lipid-binding glycoproteins. Inherited defects of lysosomal hydrolases or lipid-binding proteins cause the accumulation of undegradable material in lysosomal storage diseases (GM1 and GM2 gangliosidosis; Fabry, Gaucher, and Krabbe diseases; and metachromatic leukodystrophy). The catabolic processes are strongly modified by the lipid composition of the substrate-carrying membranes, and the pathological accumulation of primary storage compounds can trigger an accumulation of secondary storage compounds (e.g., small glycosphingolipids and cholesterol in Niemann-Pick disease).

Prevalence of different types of lysosomal storage diseases in saudi arabia

1990 ◽  
Vol 13 (6) ◽  
pp. 849-861 ◽  
Author(s):  
P. T. Ozand ◽  
G. Gascon ◽  
A. Al Aqeel ◽  
G. Roberts ◽  
M. Dhalla ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Different Types

Electron Microscopy in the diagnosis of lysosomal storage diseases

1989 ◽  
Vol 47 ◽  
pp. 866-867
Author(s):  
Carole Vogler ◽  
Harvey S. Rosenberg
Keyword(s):  
Electron Microscopy ◽  
Lysosomal Enzyme ◽  
Rectal Mucosa ◽  
Lysosomal Storage Diseases ◽  
Cell Types ◽  
Lysosomal Storage ◽  
Storage Material ◽  
Ultrastructural Examination ◽  
Blood Leukocytes ◽  
Storage Diseases

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to study tissue from patients with suspected LSD. In patients with LSD all cells lack the specific lysosomal enzyme but the distribution of storage material is dependent on the extent of catabolism of the substrate in each cell type under normal circumstances. Lysosmal storages diseases affect many cell types and tissues. Storage material though does not accumulate in all tissues and cell types and may be different biochemically and morphologically in different tissues.Conjunctiva, skin, rectal mucosa and peripheral blood leukocytes may show ultrastructural evidence of lysosomal storage even in the absence of clinical findings and thus any of these tissues can be used for ultrastructural examination in the diagnostic evaluation of patients with suspected LSD. Biopsy of skin and conjunctiva are easily obtained and provide multiple cell types including endothelium, epithelium, fibroblasts and nerves for ultrastructural study. Fibroblasts from skin and conjunctiva can also be utilized for the initiation of tissue cultures for chemical assays. Brain biopsy has been largely replaced by biopsy of more readily obtained tissue and by biochemical assays. Such assays though may give equivical or nondiagnostic results and in some lysosomal storage diseases an enzyme defect has not yet been identified and diagnoses can be made only by ultrastructural examination.

scholarly journals Sphingolipid lysosomal storage diseases: from bench to bedside

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Muna Abed Rabbo ◽  
Yara Khodour ◽  
Laurie S. Kaguni ◽  
Johnny Stiban
Keyword(s):  
Basic Research ◽  
Lysosomal Storage Diseases ◽  
Therapeutic Strategies ◽  
Clinical Applications ◽  
Late Nineteenth Century ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
The Past ◽  
Health And Disease ◽  
General Aspects

AbstractJohann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability. Currently, sphingolipids and their metabolism are hotly debated topics in various biochemical fields. Similar to other macromolecular reactions, SL metabolism has important implications in health and disease in most cells. A plethora of SL-related genetic ailments has been described. Defects in SL catabolism can cause the accumulation of SLs, leading to many types of lysosomal storage diseases (LSDs) collectively called sphingolipidoses. These diseases mainly impact the neuronal and immune systems, but other systems can be affected as well. This review aims to present a comprehensive, up-to-date picture of the rapidly growing field of sphingolipid LSDs, their etiology, pathology, and potential therapeutic strategies. We first describe LSDs biochemically and briefly discuss their catabolism, followed by general aspects of the major diseases such as Gaucher, Krabbe, Fabry, and Farber among others. We conclude with an overview of the available and potential future therapies for many of the diseases. We strive to present the most important and recent findings from basic research and clinical applications, and to provide a valuable source for understanding these disorders.

Prenatal diagnosis of lysosomal storage diseases: A review of 23 cases

Pathology ◽  
1980 ◽  
Vol 12 (1) ◽  
pp. 139
Author(s):  
W.F. Carey ◽  
P.V. Nelson ◽  
A.C. Pollard
Keyword(s):  
Prenatal Diagnosis ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Storage Diseases
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