TAY-SACHS DISEASE
The disease is named after Warren Tay (1843-1927), a British ophthalmologist and Bernard Sachs a New York neurologist. Warren Tay discovered a patient with a cherry- red- spot on the retina of the eye which has become a clear signal of Tay-sachs disease. Later on Bernars Sachs described the cellular changes in Tay-Sachs disease.
Tay-Sachs disease is a rare autosomal recessive genetic disorder that gradually destroys nerve cells in the brain and spinal cord. Mutation in the HEXA gene on chromosome 15 causes Tay-Sachs disease. The HEXA gene gives instruction to make a part of an enzyme called β-hexosaminidase A, this enzymes plays a critical role in the brain and spinal cord. The enzyme is compromised on an alpha and beta subunits. HEXA gene, specifically codes the portion called alpha-subunits of the enzyme β-hexosaminidase. Both α and β subunits are required for a proper function and binding of β-hexosaminidase. β-hexosaminidase is located in lysosomes, an an organelle that normally degrades molecules into smaller monomers that the cell can use and also act as recycling center. Every organelle within the cell has a different function. Each of their functions are managed by multiple proteins formed by multiple genes.
Within lysosome, β-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. β- hexosaminidase binds to another molecule called GM2 activator protien to form a complex of GM2 ganglioside. Having all the functioning parts β-hexosaminidase hydolyzes the complex. It does this by removing a residue called β 1-4 linked N-acetylhexosamine. After the completion of this process the complex of GM2 is converted to GM3 ganglioside. The α - subunit is very essential in the degr...
... middle of paper ...
...is only better to make the patient more comfortable by providing proper nutrition and hydration. . Researchers are exploring several options to find a cure. They have developed a mouse model but the usefulness is limited because mice posses a minor alternative pathway to breakdown GM2 ganglioside (Yamanaka et.al, 1994). They are working on finding an enzyme replacement therapy to provide the Hex-A that is lacking in babies with Tay-Sachs. The effectiveness of this treatment is extremely limited since the extent of neurological damage prior to birth is unknown. Bone marrow transplant was not successful because of the slowing damage to the central nervous system in patient with the disease. Researchers are also working on a gene therapy in which a normal gene is transferred into cells to replace an abnormal gene holds a great promise for future Tay-Sachs patients.
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
Thanks to four scientist and doctors society is able to understand Tay-Sachs disease and begin looking for a cure. Tay-Sachs disease was discovered during the late 19th century by the British ophthalmologist,
Lerner, K. L. & Lerner, B. W., (2008). Tay-Sachs disease. The Gale Encyclopedia of Science (4th ed.). Detroit
Plenty of people love the fact that they can enjoy life normal because their brain functions accordingly. Well not every one has the gift of normality. In this harsh world people are dying of all types of diseases and things that are undetectable or even treatable due to the fact that they have unknown origins. Many of the world’s diseases such as HIV, AIDS, some cases of Multiple Sclerosis and Muscular Dystrophies. Among these fatal and life threatening ailments Creutzfeldt-Jakob disease, other wise known as (CJD), takes precedence.
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
James Parkinson. It’s not certain how long the disease has existed but its probably been around
The mountain was named in 1792 by British Lieutenant William Broughto after a famous naval officer, Alexander Arthur Hood. Lewis and Clark were the first Americans to document their view of Mount Hood as they travlede through Oregon.
Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, is a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement (Dugdale, Koch, and Zieve 2010). In ALS, nerve c...
Despite being magical of gene therapy, it is high-risk. Few people got benefits from it, and it has a low rate of success. Prior to the human trial, Batshaw and Wilson had done experiment on animals to ensure the safety. Over 20 experiments have been done on mice but only 12 of them survived at last (Sophia, M. and Kolehmainen, J.D., 2000). More seriously, complicating diseases, which can be more dangerous than genetic diseases, might set in during the treatment period. In December 200...
First, I must define what types of diseases and disabilities fall under the category of things I believe we should be able to treat with genetic therapies and why. As Goering states, “if a child needs surgery or a painful treatment to survive or to thrive, we allow ourselves room to do what is ‘best for the child’ even if that may involve unavoidable pain that the child is not able to consent to.” If we were to except this as true, then a logical conclusion would be to fix the problem through genetic therapy before a child has to go through any pain. We should save them from these gruesome experiences. Some examples that Goering lists are Tay-Sachs disease, Lesch-Nyan syndrome, and cystic fibrosis (332).
Creutzfeldt-Jakob Disease is an uncommon, deteriorating, consistently fatal brain disorder that is caused by prions. The symptoms of CJD are similar of Alzheimer’s but progress much faster. There are three variations of CJD, sporadic, familial, and acquired. All variations affect the brain the same way and have the same result of death. CJD is an untreatable and incurable disease.
head group is attached to one of the glycerol hydroxyls with addition to the two hydrocarbon fatty
Gene therapy enables patients to survive incurable diseases. In the field of genetic diseases, ADA-SCID, CGD and hemophilia are three main ones. ADA-SCID is known as the bubble boy disease. CGD is related to immune system that would lead to fungal infections which are fatal. Patients with Hemophilia are not able to induce bold bleeding (Gene therapy for diseases, 2011). Gene therapy also has good effects on cancer treatment and neurodegenerative diseases, which include Parkinson’s disease and Huntington’s disease. Viral infections, including influenza, HIV and hepatitis can also be treats by it (Gene therapy for diseases, 2011). According to the Science Daily in 2011, gene therapy now can apply to heart failures and neurologic diseases as well.
Image what it would be like if doctors could cure Huntington's disease, muscular dystrophy, or even hemophilia. Could this be possible? With gene therapy this all could be reality in the near future. Gene therapy is a potential approach to the treatment of genetic disorders in humans. This is a technique where the absent or faulty gene is replaced by a working gene, so the body can make the correct enzyme or protein and consequently eliminate the root cause of the disease (BIO, 1990).