organs and, hexosaminidase activity was almost entirely non-existent. Aside from being the first to give a biochemical description of GM-gangliosides in 1963 and discovering Sandhoff’s disease in 1968, Konrad Sandhoff also discovered several biochemically distinct diseases—namely Tay-Sachs-Disease, the AB-variant of GM2-Gangliosidosis and the B1-variant of GM2-gangliosidosis. Sandhoff is triggered by the deficiency of two important enzymes: Hexosaminidase A (Hex A) and Hexosaminidase B (Hex B). The
LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons. 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
location in the body where the macromolecules that are to be catabolized are found, and 2) The location where the catabolism occurs. 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
Tay Sacs is a genetic disease.autosomal recessive genetic disorder. In its most common variant, known as infantile Tay–Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent.Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation
chromosome #15 (ncbi.nlm.nih.gov). The mutated gene is the Hex-A gene, which codes for the production of the enzyme beta-hexosaminidase A (see picture A) (ghr.nlm.nih.gov). Tay-Sachs disease is a genetic disorder, which destroys nerve cells in the brain and spinal cord (See picture B). It is a mutation to the Hex-A gene. The enzyme created by the Hex-A gene, beta-hexosaminidase A, breaks down fatty substances called GM2 ganglioside. Because the gene is mutated and can no longer break down the substance
The Identification of Tay Sachs Disease Tay Sachs Disease is a lysosomal storage disease that was first uncovered over a century ago. Since the defective enzyme was originally identified in 1969, we are now capable of providing numerous tests and screening methods to those that may be at risk for TSD. While anyone can undergo TSD screening, it is primarily geared toward the high risk Ashkenazi Jew population. Testing was originally accomplished in the 1970s by measuring the activity of HexA in a
disease that eradicates nerve cells in the spinal cord and brain, causing paralysis and loss of motor functions. It almost always results in the death of the affected. The disease is found in a mutation on the HEXA gene. The HEXA gene makes beta-Hexosaminidase A, an enzyme that is necessary for proper spinal cord and brain development. This works to break down GM2 ganglioside, a fatty substance. When a mutation occurs here, the GM2 ganglioside can’t be broken down, accumulating to harmful levels in
CORE COMPETENCIES • PhD in Biochemistry from University of Toronto with 3 years of Postdoctoral experiences in academic and industrial settings, such as GlaxoSmithKline Biologicals and Industrial Biodevelopment Laboratory, in the field of Immunology and Cell Biology • Holding a certificate in Business Development • Ability to communicate and write in three languages: English, French and Persian • Extensive and in-depth medical knowledge in multiple therapeutic areas in specific Oncology (prostate
including the X and Y chromosomes. On chromosome 15, the DNA codes for an enzyme, which is a substance that allows you to speed up chemical reactions in your body, that breaks down unneeded substances from your body. This enzyme is called beta-hexosaminidase. This unneeded substance that this enzyme breaks down is a fatty substance called GM2 ganglioside. If the enzyme is able to break down this GM2 ganglioside in the lysosomes, an organelle in your body where the breaking down of this substance occurs
defective gene from both parents and the two defective genes are now affecting each cell inside of their baby. Furthermore, I would discuss the Tay-Sachs disease itself. I would explain to the couple that the disease is caused by a mutation of the hexosaminidase A (HEXA) enzyme that has been altered. Because the parents would not understand this – I would explain the function of the HEXA gene and how it is responsible for the breakdown of fatty substances in the brain. Explanation would also include
Tay-sachs Disease Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material
onset. Parents who child is affected by this disorder, I can only imagine the devastation that they go through with this type of diagnosis and it is heartbreaking. Tay-Sachs disease (TSD) is a fatal genetic disorder caused by the absence of beta-hexosaminidase-A enzyme, the alpha subunit of the HEXA gene, that results in progressive destruction of neurons, nerve cells, in the brain and spinal cord. The course of
genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain and spinal cord. (“Health and Wellness Resource center and Alternative Health Module”). This enzyme helps to break down GM2 or ganglioside, which without the enzyme to break it down, accumulates to toxic levels
diagnosed with a mild form of juvenile Tay Sachs disease, a genetic disorder found in many Indians in this region of Russia (Joseph, 2052, pg.6). Tay Sachs is caused by an excessive substrate formation due to decreased levels of an enzyme called hexosaminidase A (Pubmed Health, 2010, pg.1). Mr. Joseph lost the strength to control the movement of his muscles in his arms and legs due to his disease. However, this major obstacle did not prevent Special Agent Joseph from achieving his dream. He began to
“The highest rated science program on TV called NOVA made a documentary surrounding genomic testing called, Cracking Your Genetic Code (NOVA, 2008).” This documentary demonstrated and described different techniques of what is genetic testing, how genetic testing is performed, and all the individuals whom benefit from these special DNA techniques. What is DNA? “DNA is material that governs inheritance of eye color, hair color and many other human and animal traits (Riley, 2005).” DNA is developed
inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003). Hex-A is a protein that helps break down a chemical found in the nerve tissue that is called gangliosides. Tay-Sachs disease develops when the body lacks Hex-A (Gravel, 2003). The Hex-A protein is essential and without