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Poster about Gaucher's Disease
- Module
- Metabolic Biochemistry
- Institution
- Goldsmiths, University Of London (GUL)
Poster about Gaucher's Diseased made for second year student of university related to Biological Sciences.
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Gaucher’s DiseaseJoyce Boza
ID no. w1965566
Gaucher’s Disease (GD) is an inherited metabolic disorder. The most Pathogenic GBA1 variants cause mRNA instability, protein loss, or
common lysosomal storage disorder (LSD) is known for the build-up of production of an enzyme with impaired activity or altered structure.
glucocerebroside lipids in different organs due to the mutation of the
glucocerebrosidase (GBA1) gene, leading to deficient Gaucher disease (GD) results from deficient glucocerebrosidase activity,
glucocerebrosidase activity. leading to the accumulation of decompose substrates like GL1 and other
glycoproteins. These substrates mainly derive from the breakdown of
This results in the accumulation of glucosylceramide (GL1) in aging blood cells and tissue debris, accumulating in
macrophages, forming characteristic Gaucher cells with wrinkled monocyte/macrophage cells of the reticuloendothelial system.
cytoplasm and off-centre nuclei. These cells primarily accumulate in
the reticuloendothelial system. One of the most predominant symptom The following diagram shows the signs and symptoms of different
of the disease is the enlargement of spleen and the liver but varies phenotypes of GD:
depending on the phenotype of the disease.
Image B: Histiocytes with abundant fibrillary cytoplasm
Genetic Mutation of in a bone marrow clot (H&E, 60x) (Tsang and Hamodat, 2015)
Gaucher’s Disease
Gaucher cells are enlarged macrophages filled with
The parents of an individual with undigested glucocerebroside and are a hallmark of
GD are heterozygous of a Gaucher disease. These cells are notably large, with
pathogenic variant in the GBA1 nuclei positioned off-centre and cytoplasm displaying
gene, though one parent may distinct wrinkled or striated patterns. Biopsy is done to
occasionally be homozygous. If confirm the presence of Gaucher's cells but is not the
both parents are carriers, each only test done to get to a diagnosis.
sibling has a 25% chance of
being affected, a 50% chance of In conclusion, Gaucher’s disease results from the
being a carrier, and a 25% deficiency of glucocerebroside activity accumulating
chance of inheriting no variant. decomposed substrates in the macrophages; once the
Once the variant is identified, cells fill up, the organs are involved, and the symptoms
genetic carrier or prenatal show up, requiring different testing to diagnose and differ
testing can be performed. between the different phenotypes, like genetic testing,
(National Gaucher Foundation, 2019) prenatal testing and biopsies, more than one testing is due
as symptoms can be confused with other disorders.
Gaucher disease is categorized into phenotypes as follows, see table below:
References:
Type 2 Type 3 Perinatal-
PHENOTYPE Type 1 (acute; (subacute; lethal Cardiovascular Gözdaşoğlu, S. (2015). Gaucher Disease and Gaucher Cells. Turkish Journal of
infantile) juvenile) form Form Hematology, 32(2). Doi: https://doi.org/10.4274/tjh.2015.0043.
Infancy Childhood to National Gaucher Foundation (2019). Gaucher Disease Inheritance & Genetics |
AGE OF Adult to early Childhood Perinatal early National Gaucher Foundation. Doi: https://www.gaucherdisease.org/about-gaucher-
ONSET childhood adolescence disease/genetics/ .
Pastores, G.M. and Hughes, D.A. (2000). Gaucher Disease. PubMed. Doi:
The GBA1 gene encodes glucocerebrosidase, a lysosomal membrane- https://www.ncbi.nlm.nih.gov/books/NBK1269/.
associated glycoprotein. This enzyme, composed of 497 amino acids, has four Samdani , R. and Tsang , P. (2023). Gaucher Disease. Doi:
oligosaccharide chains attached to specific asparagine residues, and its three-
https://www.pathologyoutlines.com/topic/livergauchers.html.
dimensional structure includes three disulphide bonds. Its primary function is
Tsang , P. and Hamodat, M. (2015). Normal bone marrow histology. Clinical Gate. Doi:
hydrolysing glucosylceramide (GL1) into glucose and ceramide. Image A: Normal bone marrow biopsy using
Haematoxylin & Eosin (H&E) (Clinical Gate, 2015) https://clinicalgate.com/normal-bone-marrow-histology/
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