Tay Sachs Research Paper

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

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.

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.

Signs of the disease generally take longer to show up, happening from the teen years to mid- late twenties, and possibly even later than that.

Tay Sachs disease is a life threatening disease that is passed down through families. Anyone can be a carrier of Tay Sachs, but is not common in the general population. The disease is most common in the Jewish population. 1 in every 27 members is a carrier of the disease. Tay Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken (Genetics Home Reference, 2017).

This disease causes the deterioration of the nerve cells and physical state for the first 6 months. Some symptoms during the infantile stage are blindness, deafness, and the inability to swallow. Sometimes the infant could be born paralytic. At juvenile age, the child may experience cognitive and motor skill deterioration. Motor speech, muscle movement, and swallowing are all non-apparent in the juvenile. Genetically, Tay-Sachs disease is caused by the HEXA gene. This gene provides instructions for making enzyme, beta-hexosamindase A, which is essential in brain, nerve, and spinal cord development. Mutations in this gene cause the beta-hexosamindase A from breaking down GM2 ganglioside which results in the accumulation of gangliosides in the brains nerve cells, thus causing Tay-Sachs disease. Tay-Sachs develops when very harmful gangliosides collect in the brains verve cells which ultimately result in death of the cells. Tay Sachs can be identified as a cherry-red spot located on the nerve

Tay-Sachs sickness is an entangled and uncommon malady that happens when there is transformation in the DNA. This change does not permit the body to create 'Hex-A', which is basic to separating greasy mixes. Without this chemical, cerebrum and nerve harm can happen. Tragically this ailment has no treatment arrange and normally by 10 months of age, the youngster may encounter visual deficiency, seizures and be formatively postponed. The visualization is tragic: the kid will once in a while live past 5 years of age. The reason the youngster has this malady is on account of it is acquired. Either one or both of the folks are a transporter of this genotype that when communicated in posterity brings about Tay-Sachs. In the event that both folks

The body is a very diverse and complex system. Tay-Sachs disease can be a very scary but rare illness. Tay-Sach’s is a genetic disease which causes destruction to vital body systems, such as the brain and spinal cord. The invisible disease at first, begins within the fetus at early stages of pregnancy. Up until the age of 6 months, this death causing disease is imperceptible.

Tay-Sachs disease got its name from Warren Tay and Bernard Sachs. Warren Tay was a British ophthalmologist who first discovered a cherry-red spot on the retina of the eye. Bernard Sachs was a neurologist from New York who later discovered and described the cellular changes of the disease. Not only did Sachs become the first person to recognize the cellular changes, but he was also able to see that the disease was most common amongst families .

Signs and symptoms are not as simple as the common cold or fevers, as they differentiate depending on the location of where the neuron is damage. Common signs are: numbed limbs, partial or complete loss of vision, loss of coordination in gait, dizziness, or conflicts with inner organs such as bladder complications (MedlinePlus). For example the patient has symptoms of poor coordination, it could be that case that the loss of coordination in locomotion was because of the muscle fibers may not receive an electrical impulse that is required for a specific movement. Different cases depend on which type of MS

Tay-Sachs is a disease caused by a mutation to the gene which codes for Hex A. Without Hex A, a cell cannot degrade GM2 ganglioside into GM3 ganglioside. This results in a build up of ganglioside’s in lysosomes of neurons. The result is varying degrees of mental deterioration. New DNA-based screening is currently being developed to replace the enzyme-based screening techniques that have been used since 1969. This will not only speed up the diagnosis, but also allow for earlier detection of Tay-Sachs by using the parents genotypes.

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.

The muscles that are most severely affected by the disease process are the muscles of the pelvic girdle. You can see early signs of the disease in the weakness of the gluteal muscles. Proximal muscles of the upper limb are not affected until later in the later progression of the disease, so individuals are still able to write, use easing utensils, and use keyboard. Then there is the weakening of the respiratory muscles gradually; finally, the weakness of the cardiac muscle fibers which in turn leads to the weakening of the heart muscles, which can lead to heart failure.

There are signs and symptoms having to do with this disease. It is present when you are first born, if you are said to have it. However, when they are first born with it, they don’t start encountering problems until they are 6 months or around that age. All states in the United States and their territories, and other places are required to screen for the sickle cell disease on all newborns. Symptoms of this varies from child to child. Some may get symptoms earlier than the next. Early symptoms can be swelling of the hands and feet that is painful. That symptom is known as dactylitis. Another early symptom can be jaundice, which is a yellowish color of the skin. Being fatigue and irritated is another symptom detected early. However, even though there are early symptoms at 5 or 6 months after birth, the doctor can’t predict all the symptoms they will have, when they will start and how severe they will be. Some possible symptoms from the disease would be shortness of breath, being weak and looking pale. Another type of pain you could have is, pain in your bones. The pain can last between a few hours and a few weeks. Some teenagers and adults can have chronic pain that comes from joint damage, ulcers, and other things. The swelling and pain they feel in their feet and hands comes from the sickle shaped red blood cells that are blocking blood from flowing to their hands and feet. Also, abdominal pain is a symptom. Mainly

Problems relating to speech and swallowing may also be present and can worsen over time, eventually interfering with feeding. Those who show symptoms after entering school may survive into adulthood although will experience a progressive decline in intellectual function and may be affected by seizures. The average life expectancy of those affected by the childhood-onset form is 5-15 years of age.