Incorporating Different Units of Biology into Gaucher Disease Jennifer Chao Westminster Secondary School SBI4U1 Mr. Dunne January 5, 2015 Introduction There are many units involved in biology, but the main focus of this report involves only five. They are biochemistry, metabolic processes, genetics, homeostasis, and population dynamics. These five units will all relate back to a general topic, which in this case is Gaucher disease. For every unit, there is a question that needs to be solved. This creates more of an in-depth understanding of both the units and the general topic. It will also display many connections between each unit and Gaucher disease. Background Information General Topic: Gaucher disease is a metabolic…
the continuous pumping of hydrogen ions into the cell, allowing for lysosomal hydrolases to carry out optimal function. Lysosomes act as the digestive agent within the cell breaking down cellular waste, proteins, fats, and carbohydrates into simpler molecules…
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.…
Glycogen-storage disease type II (GSDII), also referred to as Pompe’s disease, is an autosomal recessive disorder that results from the deficiency of acid alpha-1,4 glucosidase, a lysosomal hydrolase. The disease was first discovered in 1931 when Pompe examined a girl who died after contracting idiopathic hypertrophic cardiomyopathy. Pompe realized that there was an excessive amount of glycogen in all of the girl’s organs and tissues, and he described the pathologic features. Stores of glycogen…
Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles…
Pompe Disease Plan For my graded unit I have chosen a genetic disorder called Pompe disease as my topic to research and write about. After looking at a number of different genetic disorders, I have chosen Pompe disease. This topic relates to the cell biology aspect of my course, where in cell biology we study the structure, the function and the physiological properties of a cell and through out this report I will be writing about the cells that are affected by pompe disease. This report will…
Farber lipogranulomatosis, or simply Farber’s disease, is a lysosomal storage disorder that involves the hydrolysis and use of lipids. A lysosomal storage disorder is a defect in the function of a lysosome, enzymes that hydrolyze large molecules and then move the fragments on to other parts of the cell for other uses. Farber’s disease is a rare, genetic condition that involves a deficiency in the enzyme, ceramidase. Ceramidase is a lysosomal acid that causes cell growth, cellular…
Amicus Therapeutics is a biopharmaceutical company based in Cranbury, New Jersey. The company’s focus is on finding advanced therapies and treatments for a broad range of human genetic diseases. These diseases, known as orphan diseases, typically affect fewer than 200,000 people nationwide. Currently the company’s main concentration is on treatments for Lysosomal Storage Disorders such as Fabry disease and Pompe disease. Amicus Therapeutics has directed their development on the…
In the article, “Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV” discussed the impacts of TRMPL1 on MLIV. Lysosomes are important in maintaining healthy cells, however, with the absence of lysosomal TRP channel TRPML1 then the lysosomal pH becomes more acidic because of the calcium leakage; hence, this makes lysosomes more sensitive to fusing, and due to being near exocytosis regulating secretory granules in…
Analysis of the Molecular Basis of Wolman Disease Wolman disease is an autosomal recessive condition that is characterized as the complete deficiency of the lysosomal enzyme, lysosomal acid lipase (LAL).1 LAL is responsible for hydrolyzing triglycerides and cholesterol esters in the body that have been internalized via receptor mediated endocytosis.2,3 Therefore this enzyme functions inside the lysosome to carry out hydrolysis of lipids. Wolman disease is contracted by an estimated 1 out of…