Essay on Tay-Sachs

Main Point C: The similarities and differences between Tay-Sachs and Fragile X as wells as the similarities and differences between Alzheimer’s and Parkinson’s.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

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.

(TCO 6) Which of the following is a genetic disorder resulting in debilitating protein abnormalities?

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.

Warren Tay who was a British ophthalmologist physician, he noticed a cherry red spot in the retina of a one year old child who was suffering from mental and physical retardation. Bernard Sachs who was an American neurologist noticed an extreme swelling of neurons in autopsy tissue from affected children. He also founded that the disease comes from the families who is Jewish origin. Both physicians were describing the same disease, but it was not until the 1930s that the material causing the cherry-red spot and neuronal swelling was identified as a ganglioside lipid and the disease could be recognized as an "inborn error of metabolism." The term "ganglioside" was coined because of the high abundance of the brain lipid in normal ganglion cells

Tay-Sachs follows an autosomal recessive pattern – both copies of the gene possess mutations. Warren Tay first described it in 1881. Bernard Sachs was the first to describe cellular changes and the genetics of it, in 1887. Tay described a patient with a cherry-red spot on their retina. Sachs established the connection the familial connections of the disorder, noting that most babies who had Tay-Sachs were of Eastern European, Jewish descent. If symptoms and physical characteristics suggest that a child may be suffering from Tay-Sachs disease, blood tests are used to determine whether or not the child’s body is producing the necessary Hex-A enzyme. DNA is extracted from the sample in an attempt to detect mutations of the Hex-A. There is no known cure for Tay-Sachs disease. For treatment and to ease the pain of/reduce some of the side effects, doctors may prescribe seizure medications. It is highly recommended that Tay-Sachs patients begin some form of Respiratory therapy. This type of therapy is necessary because children who have Tay-Sachs have a high chance of developing lung

A simple definition of Tay-Sachs disease is the malfunction of the lysosomes (organelle that removes cell waste) which causes excessive amounts of lipids or other fats to build up to a point that causes cell and nerve tissue damage. Scientifically explained, a vital enzyme called hexosaminidase-A (also called Hex-A) which is absent causing fatty or lipid substances to build up. There are rare cases where these lipids build up in other tissue, but it’s especially and normally is found in the nerve cells of the brain.

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.

Tay-Sachs disease is an autosomal recessive disease. Tay Sachs disease can be attributed to the inhibited activity of the hydrolase enzyme b-Hexosaminidase-A (HEX A). The Hex A gene is on the q arm of chromosome 15. When mutated the breakdown of ganglioside from disialotetrahexosylganglioside (GM2) to monosialodihexosylganglioside (GM3) is defective. This results in a buildup of GM2 in the lysosomes in nerve cell. These lysosomes swell in size and can rupture resulting in many neurological defects and hepatosplenomegaly. The accumulation and burst of the lysosome manifest itself in three different, but categorically similar ways depending on the type of mutation in Hex A. While many therapies are in clinical trials most of the treatment options are done just to treat the symptoms of Tay Sachs because no cure exists.

The enzyme huntington binds to glyceraldehydes-3-phosphate-dehydrogenase (GAPDH), a important enzyme in glycolysis. The cells now have inefficient glucose to the cells, which in the overall process causes the cells to die. ( Science News p268 )

Tay-Sachs Disease is a rare fatal hereditary disease, occurring chiefly in infants and children, characterized by a red spot on the retina, gradual blindness, and paralysis. In infants, it is a progressive disease that is unfortunately always fatal. It is a rare metabolic disorder with severe neurologic symptoms.When you get this disease it causes fatty acids to start breaking down. Theses fatty acids are called lipids. Without Hex-A lipids start building up and eventually destroy the nerve cells in the brain. This is what makes the nervous system stop functioning properly.

Gaucher disease is an autosomal recessive disease that occurs in about 1 in 20,000 births. It is one of the highest prevailing Lysosomal Storage Disorders and it involves many organs including but not limited to the spleen, liver, brain, lungs and bone marrow. In the lysosomes part of the cell the enzyme glucocerebroside does not work properly allowing it to build up toxic levels in the various different organs. It is an inherited genetic disorder so in order for a child to be born with it, both parents must give the child a copy of the mutated gene. It was first discovered by Dr. Philippe Gaucher in 1882, hence the name Gaucher disease.

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

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.