Tay-Sachs Disorder

effective at keeping movement within the joints possible and helps to relieve stiffness of the patients (“Tay-Sachs disease”, 2016). There are a few experimental treatments developing. The first is Tay-Sachs Gene Therapy, this treatment includes introducing genes into diseased cells to try and correcting the mutations such as lysosomal defects (Cachon-Gonzlez, et al., "226. Effective Gene Therapy in an Authentic Mouse Model of Tay-Sachs Related Diseases", 2006). Cross correction mechanism is the proposed mechanism of action.

There are many diseases in the world that can have severe negative impacts on a person and their family. Many neurodegenerative diseases are caused by genetic mutations. This essay will be discussing the similarities and differences between the diseases of Tay-Sachs, Alzheimer’s, Parkinson’s and Fragile X as well as their symptoms, treatments and intervention strategy’s.

In order for Tay-Sachs disease to be relevant the Hexosaminidase-A (Hex-A) enzyme is either defective or absent. This enzyme is needed to survive because it helps breakdown specific substances such as fats. The massive build-up of lipids called gangliosides affect the central nervous system, which eventually starts to destroy the cell and damages the tissue around it. Most people working in the medical field would define that occurrence as an “abnormal storage”. In order for the child to inherit this disease, both parents must be carriers. However, statistically it is stated there is only a 25 percent chance of the child to be affected if both parents are carriers. The child also has a 50 percent chance of becoming a carrier

Since children lack the HEXA-A gene it causes progressive damage and eventually the nervous system will shut down because it can no longer produce vital neurons needed to function the nervous system and life. Beta-hexosamindinidase is located in the lysosomes, which are structures in cells that act as recycling centers and breaking down the toxic substance. Beta-hexosamidnidase role is toxic and fatty substances called GM2 ganglioside. If the gangliosides become overpowering or too much, can cause destruction of the neurons. The excessive storage of the gangliosides in lysosomes is another factor that causes Tay-Sachs. Tay-Sachs occurs usually when the individual lacks the protein hexosamindinidase A and defected and alterations on chromosome 15 (specifically 15q23-q24). More than 50 mutations having been discovered on chromosome 15 and HEXA-A enzyme. The mutation can vary as in deletion, insertion, and splitting in which each mutation alters the protein. The mutation and disorder cause a decrease in enzymes activity. The severity of the disorder depends on the degree of the enzyme activity and deficiency. For example, one mutation includes, the mutation includes a G-to-T substitution at the 3-inch end of intron 5, which makes a short mRNA. Then skipping exon 6 and the polypeptide lacking 34 amino acids. (Tanaka

  Yes, besides those who are Ashkenazim, others can carry and give birth to a child with Tay-Sachs disease. What makes Jews of Eastern European descent so different is that their odds are a lot higher than those who are not. “In peoples around the work Tay-Sachs appears once in every 400,000 births. But it appears a hundred times more frequently- about one in 3,600 births-among descendants of Eastern European Jews, people known as Ashkenazim”.

“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience seizures, vision/hearing loss, mental disability, paralysis, and a cherry red spot on the eye. This leads to loss of coordination, alertness, and respitory health. The disease has three forms infantile, juvenile, and late-onset. In infants

Well what causes Tay Sachs disease is that there’s something wrong with there fifteenth chromosome with this problem your body has trouble making the protein hexosaminidase A, since your body doesn’t make that anymore gangliosides build up and eventually will kill brain cells. In order for your child to get this disease the defective gene has to be passed down from each parent so that would mean that Tay Sachs disease is a heredity disease. If the defective gene just gets passed down from one parent it means that the child is a carrier of Tay sachs disease, in which this means that if this child marries someone who is also a carrier of Tay Sachs disease that means that there child will absolutely have this disease

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

The HEXA gene provides instruction for making part of an enzyme called beta-hexosaminidase A, which plays a very critical role in the brain and spinal cord. This enzyme is found in the lysosomes, which are the structures in cells that break down toxic substances and their job is that of a recycling center. Beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. The mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in the neutrons in the brain and also the spinal cord. Damage by the buildup of GM2 ganglioside leads to the destruction of the neurons; Causing signs and symptoms of Tay-Sachs disease.

Tay Sachs is a genetic disorder that occurs when there is a missing enzyme in the body. This causes a buildup of fatty substances in the nervous system (Gale). Beta-Hemosaminidase, or HexA, is the missing enzyme that causes the various nerve disorders that happen within Tay Sachs (NTSAD). This disease is inherited in a few different areas of the world, but it is most commonly

Symptoms of Tay Sachs disease is muscle weakness, lacking of muscle coordination, movement issues, problems with speech, and mental issues. The disease is caused by mutations in the HEXA gene. The HEXA gene is responsible for making a part of an enzyme called beta-hexosaminidase A which is located in lysosomes and plays a key role in the brain and spinal cord. The enzyme helps break down a substance called GM2 ganglioside. The mutation will keep the enzyme from breaking down the GM2 and the substance builds up to toxic levels mostly in neurons in the brain and spinal cord. As the GM2 substance builds up even more, the neurons are destroyed and symptoms began to show.

This genetic disorder goes by many names such as Tay sachs, B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha-subunit deficiency (variant B). Those are some of the many names for Tay Sachs.

Without this enzyme working properly, there will be a toxic buildup of ganglioside in the brain causing serious and life-threatening complications. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”).Which is why the symptoms are so serious and normally result in the death of the person that has this disease. The person doesn't necessarily die from the actual disease sometimes, it can actually be from complications caused by this disease. 1 in 3600 Jewish infants are born with Tay Sachs disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). This disease, although it may not seem like it, is a autosomally recessive disease that has to be inherited through parents that either have the disease or are both carriers. Parents can be carriers and not even know it because this disease is recessive so both recessive alleles have to be present in order for the disease to show itself. Interestingly, 1 in 27 eastern European Jews are carriers for this disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Two of the three forms listed above are fatal and result in death not very late after diagnosis. Death normally occurs at a young age as the

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Tay-Sachs disease takes place when there is an absence of hexosaminidase A within the human body. Hexosaminidase A is protein that allows for the breakdown of gangliosides, or chemicals found in nerve tissue. In the absence of Hexosaminidase A, gangliosides accumulate in cells, particularly within nerve cells of the brain. The main cause of Tay-Sachs disease is identified as a defective gene on a chromosome. In order for a child to inherit the disease, the child must receive the defective gene from both parents. If the defective gene is only inherited from one parent, the child only has one copy and is considered a carrier of the disease. As a carrier, the child will not have the disease, but will be able to pass it on to offspring. Although