Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.

Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease. Curr Opin Chem Biol. 2019 Nov 25;53:204-215 Authors: Aerts JMFG, Kuo CL, Lelieveld LT, Boer DEC, van der Lienden MJC, Overkleeft HS, Artola M Abstract Glycosphingolipids are important building blocks of the outer leaflet of the cell membrane. They are continuously recycled, involving fragmentation inside lysosomes by glycosidases. Inherited defects in degradation cause lysosomal glycosphingolipid storage disorders. The relatively common glycosphingolipidosis Gaucher disease is highlighted here to discuss new insights in the molecular basis and pathophysiology of glycosphingolipidoses reached by fundamental research increasingly using chemical biology tools. We discuss improvements in the detection of glycosphingolipid metabolites by mass spectrometry and review new developments in laboratory diagnosis and disease monitoring as well as therapeutic interventions. PMID: 31783225 [PubMed - as supplied by publisher]
Source: Current Opinion in Chemical Biology - Category: Biochemistry Authors: Tags: Curr Opin Chem Biol Source Type: research

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ConclusionThis study expands the mutation spectrum of GD and highlights the importance of RNA sequencing for the molecular diagnosis of patients bearing mutations in nonexonic regions.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Cl...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
PMID: 31933165 [PubMed - as supplied by publisher]
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
Publication date: Available online 7 January 2020Source: Molecular Genetics and MetabolismAuthor(s): Nathan Thibault, Jennifer Ibrahim, Judith Peterschmitt, Ana Cristina Puga, Leorah Ross, Lucie Vu, Yong Xue, Sandrine TurpaultAbstractEliglustat is an oral substrate reduction therapy indicated for patients with Gaucher disease type 1. Based on in vitro data, clinical trials were conducted to assess the potential for drug-drug interactions between eliglustat and digoxin (P-glycoprotein substrate), metoprolol (sensitive CYP2D6 substrate), a combined oral contraceptive (CYP3A substrate), and acid-reducing agents. Healthy subje...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
ConclusionsGD is a heterogeneous disease that causes different patterns of liver damage even during treatment. Although treatment improves the hepatocellular damage, it is associated with an increased rate of steatosis. This study highlights the importance of a follow-up of liver integrity in these patients.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
AbstractLysosomal storage disorders (LSDs) are multisystemic, progressive, and clinically very heterogeneous. Respiratory complications are not regarded as the principal problems of LSDs, but significantly impact morbidity. In this review, we focus on pulmonary complications observed in late ‐onset LSDs, their milder forms that are recognized in adulthood. We also discuss the effects of enzyme replacement therapy (ERT) on the respiratory system in patients with particular LSDs. We searched the PubMed database, retrieving research papers on pulmonary complications of LSDs currently tre ated with ERT (the conditions are ab...
Source: The Clinical Respiratory Journal - Category: Respiratory Medicine Authors: Tags: REVIEW ARTICLE Source Type: research
Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Bi-allelic mutations in the gene for glucocerebrosidase (GBA) cause Gaucher disease, an autosomal recessive lysosomal storage disorder. Gaucher disease causing GBA mutations in the heterozygous state are also high risk factors for Parkinson's disease (PD). GBA analysis is challenging due to a related pseudogene and structural variations (SVs) that can occur at this locus. We have applied and refined a recently developed nanopore DNA sequencing method to analyze GBA variants in a clinically assessed New Zealand longitudinal cohort of PD.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research
ConclusionsThis is the first family with GD and this combination of variants which causes a phenotype remarkable for severe bone disease with no or mild hematological manifestations.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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