As I was researching for this paper, a picture of a small girl with a big stomach like that of a pregnant woman caught my attention. It seems that she swallowed a big balloon. But this was due to the symptoms of a genetic disease called ‘Gaucher Disease,’ named after Philippe Gaucher, a medical student from Paris. Gaucher in 1882 discovered a young woman with abnormally large cells in her spleen, and similarly, about ten years later, six years old boy was also diagnosed with same condition, which has also been named ‘Gaucher Disease,’ after Philippe Gaucher.
Figure 1. location of GBA gene on chromosome 1 / http://ghr.nlm.nih.gov/gene/GBA
Within our body, many different enzymes assist in breaking up of macromolecules into smaller molecules. Gaucher Disease takes its form when an enzyme named ‘β – glucocerebrosidase’ is unable to breakdown the fatty substance into a small sugar molecule and fat molecule. This is due to the mutations of GBA gene, Glucosidase Beta Acid gene, which is located on chromosome 1, specifically base pairs 155,234,447 to 155,244,861.1 This gene encodes the enzyme ‘β – glucocerebrosidase’ that is active in lysosomes, basically a vesicle holding many enzymes responsible for breaking down the dead cells or digesting food. Since its job is critical for maintenance of basic cellular function in our bodies, we can easily find this gene across many cells under various conditions that are called ‘housekeeping gene / enzyme.’ Mutations in the GBA gene affect β – glucocerebrosidase’s activities and the related substances cannot be broken down further; thus, leading to a natural buildup of white blood cells in the liver, lungs, bone marrow, spleen, and other organs. This abnormal storage of the substances is charac...
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...be advised and required. The orthopedic surgical techniques are used to relieve the pressure from damaged bony areas. And insertion of prosthetic devices is given to those whose joints have been damaged by the Gaucher disease. While bone marrow transplantations were administered as a treatment for those who are severely ill, due to high-risk procedure and requirement of precisely matched donors, this operation is performed infrequently, and otherwise reserved for the terminally ill patients. In addition to the listed therapies above, a drug named, “Zavesca” has been licensed to act as an inhibitor of one of the key enzymes responsible for the formation of glycosphingolipids, such as glucocerebroside. Also, osteoporosis and bone drugs such as “Fosamax or Alendronate, Didronel or Etidronate, and Pamidronate, are prescribed to treat Gaucher patients with bone disease.
Lysosomes contain hydrolytic enzymes which function in the acid of the lysosome and are meant to be secreted not as wastes into the extracellular fluids, but as secretory proteins into an intracellular organelle. When one of these enzymes is dysfunctional, the catabolism of its macromolecule does not completely occur and there is a buildup of the macromolecule inside the lysosome. This results in great numbers of large lysosomes which begin to interfere with the normal functions of the cell. This disorder is called lysosomal storage disorder. These disorders can eventually lead to the dysfunction of the organs. The organs affected by the disorder are determined by two factors: 1) The location in the body where the macromolecules that are to be catabolized are found, and 2) The location where the catabolism occurs.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest by far in the Ashkenazi Jewish population, making it the most common genetic disease within this ethnic group.
In 1997, Andrew Niccol produced the movie GATTACA. The movie described a world with genetically modified humans, modified at birth to be the perfect child their parents always wanted. In the 1990s, the movie seemed like a science fiction fantasy, but recent advances in biomedical procedure have started to make it a reality. While a future full of genetic engineering may be an intriguing notion, the human genome should be left alone. Humans should not be tampered with.
11. Following her recovery, Margaret was placed on three medications: (A) oral calcium supplementation, (B) oral estrogen, and (C) oral alendronate sodium (Fosamax). Specifically describe how each of these medications works to treat Margaret’s condition. Oral calcium is given to Margaret to help with the loss of bone tissue and to help with the aid of forming stronger bone tissue. Oral estrogen is for to help make up for the loss of estrogen deficiency in her body due to menopause and this drug also helps to prevent weakened bones and due to the lack of activity Margert is accustomed to this will be beneficial for her. Oral alendronate sodium is for an inhibitor to help with bone reabsorption of
On July 8, 2003, George W. Bush delivered a speech at Goree Island, Senegal in an attempt to acknowledge and atone for America’s past of slavery. This speech served as a confession of America’s past “sins”, and a movement towards restitution for these “sins” through the proposition of “economic partnership and political partnerships” (Medhurst 258), and a promise of American investment to fight AIDS in Africa.
Our chicken sandwich has, by now, been broken down into digestible nutrients. The pancreatic juices have broken down the carbohydrates in the bread into monosaccharides (such as glucose and galactose) which leave the enterocyte by facilitated diffusion and enter the rich network of capillaries. They are transported in the blood stream and cross into the cytoplasm by Na+ cotransporters. Amino acids are moved to the circulation by facilitated diffusion. Lipids from the butter are broken down into fatty acids by lipases and are then absorbed across the cell membrane into the cytosol where they are reassembled into lipoprotein particles called chylomicrons. These are carried through lymphatic channels and into the circulation via the thoracic duct. The bloodstream carries simple sugars, glycerol, amino acids, and a number of salts and vitamins to the liver. The lymphatic system, a network of vessels that carry white blood cells and lymph fluid throughout the body, absorbs fatty acids and
Hoffmeister, Ellen. "Gene Therapy and Pharmaceuticals Offer Hope for Many Patients With Brittle Bones." Bone and Joint 11.5 (2005): 49-51. eBook.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
There exists no power as inexplicable as that of love. Love cannot be described in a traditional fashion; it is something that must be experienced in order for one to truly grasp its full enormity. It is the one emotion that can lead human beings to perform acts they are not usually capable of and to make sacrifices with no thought of the outcome or repercussions. Though love is full of unanswered questions and indescribable emotions, one of the most mystifying aspects of love is its timeless nature. Love is the one emotion, unlike superficial sentiments such as lust or jealousy, which can survive for years, or even generations. In the novel The Gargoyle, the author, Andrew Davidson, explores the idea of eternal love between two people, a union that spans over centuries spent both together and apart. Davidson, through the use of flashbacks, intricate plot development and foreshadowing, and dynamic characterization, creates a story that challenges the reader’s preconceived notions regarding whether eternal love can survive even when time’s inevitable grasp separates the individuals in question.
Sarah Boseley, "Number of People; Hospitalised Because of Weight Triples in Fiv Years". (5) pp. 1-2, 6, 11-12 [online] Available From: www.guardian.co.uk [Accessed 20th Feb 2013]
a baby ranging from low birth weight and abnormalities to death. There are a few government
Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme Galactose – 1 – Phosphate Uridyl Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking down the sugar galactose. This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 80,000 births being affected by the disorder.
Treatment option for the disorder includes; blood transfusion, which is done to replace the affected hemoglobin, Excess iron removal from the blood stream by administering folic acid to the patient, bone mirror transplant and sometime a surgery may be required