Glucocerebrosidase

Abstract Introduction A 2-year and 7-month-old girl is undergoing several treatments to attenuate the effects of type 2 Gaucher disease on her health. She has been diagnosed with type 2 Gaucher disease since she was three months old and several symptoms have appeared during that short lap of time. Case presentation In a type 2 Gaucher disease patient, the lysosomal enzyme β-glucocerebrosidase undergoes mutation and is therefore unable to break down glucocerebroside into ceramide and glucose. Glucocerebroside present outside the macrophages in other cell types is responsible for causing the degradation or production of other complex glycolipids. This therefore triggers cell death and can eventually affect calcium metabolism and neurological functions. The accumulation of glucocerebroside within macrophage lysosomes causes tissue damage, localised compression of blood vessels as well as macrophage activation [5].…

Patients of Gaucher’s disease possess Beta-Glucocerebrosidase enzymes that are deficient in their ability to breakdown glycolipid resulting in enlarged and irregularly shaped cells. Enlarged Gaucher’s cells can cause tissue invasion, posing threatening health problems such as hepatomegaly and splenomegaly as well as glycolipid deposits in the kidneys, lungs, bone marrow, and brain. The symptoms of this autosomal recessive disease, as Dr. Roscoe Brady discovered, are due to a mutation in the GBA…

Km and Vmax determination of glucocerebrosidase towards p-NPG The Michaelis constant (Km) is a measure of the affinity of the enzyme towards the substrate, with smaller values representing greater affinity. Km and the maximum rate (Vmax) of leukocyte GCase were obtained through the Lineweaver-Burk plot (Figure 4) with artificial substrate p-NPG in concentrations from 0.71 mM to2.50 mM. Km and Vmax values for leukocyte GCase using p-NPG as substrate was found to be 12.6 mM and 333 U/mg…

To determine optimal pH value for the hydrolysis of p-NPG by leukocyte GCase, we examined effects of variable pH (4.0-5.5) at a constant substrate concentration (5mM). Figure 1 shows the pH activity curves of leukocyte GCase assayed in the presence and absence of 6 mg per ml Sodium taurocholate. In the absence of the pure sodium taurocholate, the activity in the range of pH 4.0-4.8 was considerably lower. However, in the presence of pure Sodium taurocholate, leukocyte GCase was optimally active…

GBA1 MUTATIONS INTERFERE WITH WNT/β-CATENIN SIGNALING AND LINEAGE DIFFERENTIATION IN GAUCHER IPSC-DERIVED NEURONAL PROGENITORS. Robert Liu*, Ola Awad, and Ricardo Feldman, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, MD. Gaucher disease (GD) is an inherited lipid-storage disease caused by mutations in the acid beta-glucocerebrosidase gene (GBA1). Mutant glucocerebrosidase (GCase) leads to the accumulation of glucosylceramide and neurotoxic…

Gaucher Disease In 1882 a French physician, Philippe Charles Ernest Gaucher, first discovered Gaucher disease in a 32 year old woman; she had a swollen liver and spleen. Gaucher disease is a genetic disease meaning it is an abnormality in an individual’s DNA. Gaucher disease (GD) is described as an inherited disorder known to affect many of the body’s organs, such as the liver, spleen, bones, bone marrow and in severe cases the brain. It is also the most common lysosomal storage disease.…

suffer the most, have consequences in the lack of of levels of a certain enzyme in the body. Because of this, a fatty lipid spreads throughout one’s human body. This disease is also known to be called lysosomal storage disorder. This type of disorder can cause symptoms to happen at any time of your life, whether it is childhood or adulthood. How can you get this disease? You can get it from parents who struggle with the cells in their body. “Gaucher disease can only develop when a person…

Gaucher’s disease is a rare genetic disorder in which when a person lacks of enzyme called glucocerebrosidase. The genes that are involved are GBA(glucosidase, beta, acid) genes. The GBA genes are the ones that provide instructions for making enzyme which is called beta-glcocerebrosidase. There are 4 types of Gaucher’s disease. Type 1 Gaucher’s disease is the most common form of this condition. Type 1 Gaucher’s disease doesn’t really affect the brain or the spinal cord (central nervous system)…

other PD patients. Mutation(s) in one of several specific genes are studied as the conclusive cause of more than 5% to 15% of cases (Samii 2004). More than 9 genes related have been identified. Point mutations, duplications and triplications in α-synuclein (SNCA) gene, mutations in the leucine-rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA) gene, mis-sense mutations in PARKIN, ATP13A2, etc, can cause several kinds of dominant form of PD cases (Lesage 2009). SNCA is the major component…

it also allows there to be space for there to be other causes. In large population studies, scientists have found that people with an affected immediate family member (such as a parent or sibling) have only a 4-9% higher risk of developing Parkinson’s than they would be without the presence of PD within the family (3). Researchers have also found that there are gene mutations that can directly cause individuals to develop Parkinson’s disease, but there mutations only impact a very small number…