Pathology of Tay Sachs Disease Essays

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.

Tay Sachs can only be inherited, which means it is passed from parents to child only. The process begins in the fetus, very early in pregnancy. However, the disease does not become physically apparent until the child is several months old. Tay Sachs is caused by the absence of a vital enzyme, called the Hex A gene, which is in chromosome 15. This gene plays an important role in the nervous system. It breaks down the fatty substance called

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

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.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

These include motor neuron disease, corticobasal syndrome, progressive supranuclear palsy and FTDP-17 (FTD with parkinsonism linked to chromosome 17).

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

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

Tay Sachs Disease, or TSD, is a fatal genetic disorder that result in the degeneration of the nervous system. TSD is presented in three forms, those being classic infantile, juvenile and adult late-onset. The most commonly seen form of TSD is that of classic infantile Tay Sachs Disease. In the classic infantile form, infants generally experience their first symptoms by 6 months of age. Death of infants with TSD is typically by age 5. The symptoms that TSD infants will experience prior to death include: an onset of retardation, paralysis, dementia, blindness and reoccurring seizures. The absence of hexosaminidase-A, or what we will refer to as Hex-A, is the cause

This disease affects the nerve cells by enabling them to send electric impulses to the muscles which ultimately makes the muscle wither away and stop working. The nerves targeted are actually

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 term ganglioside lipid was thought of because of the high abundance of the brain lipid in normal ganglion cell, a type of brain cell. Other names Tay Sachs disease is known by are B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase alpha-subunit deficiency, (variant B), Sphingolipidosis (Genetics Home Reference, 2017). Tay Sachs disease is diagnosed by prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy and involves extracting a sample of the fluid surrounding the fetus using a needle through the mother’s abdomen (Herndon, 2016). If a child is displaying symptoms of Tay Sachs disease, doctors and get a family history, do blood work, tissue sample or do an eye exam to see if the child has a red spot near the

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

The genetic mutations that cause this disease are more commonly found in the Ashkenazi people with a Jewish heritage than those with other backgrounds. French-Canadian communities of Quebec, the Old Order amish community in Pennsylvania, and the Cajun population of Louisiana, are more responsible for the mutation for this disease. The HEXA has been discovered for the cause of Tay Sachs. The gene provides for making part of an enzyme, which is cause, "beta-hexosaminidase A", which plays an important role in the spinal cord and brain. Disruptions in the HEXA gene messes with the activity of beta-hexosaminidase A, and then prevents the enzyme from breaking down GM2 ganglioside. This results the the substance accumulating to toxic levels in the neurons in the brain and spinal cord. Continuous damage caused by the build up of GM2-ganglioside leads to the destruction of the neurons and thus causes the signs and symptoms of Tay-Sachs

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.