Tay-Sachs Disease: Hexosaminidase-A Genetic Analysis

Description Tay-Sachs disease, (also known as GM2 gangliosidosis or hexosaminidase A deficiency), is a fatal autosomal recessive genetic disorder caused by insufficient activity of the enzyme beta-hexosaminidase A. It is very rare, found more prevalently among certain populations, like those with Eastern European, (Ashkenazi Jewish) heritage (Bethesda, 2014), and usually results in death by the age of four. The purpose of this essay is to illustrate the pathology and inheritance patterns of this genetic disorder, and provide the molecular base, prognosis, and possible treatments.

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.

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

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.

Hana Arnold Short Paper #1 September 7, 2015 The Inheritance of Tay Sachs Disease 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

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

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Tay-Sachs disease is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Commonly it becomes apparent in infancy. Infants with this disorder usually appear normal until ages 3-6 months, when their development slows and muscles used for movement weaken. Affected infants can’t turn over, sit, or

“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

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.

Ethical Dilemma D.B. was born May 30, 1999, with a condition most commonly known throughout the Eastern European Jewish community. Tay-Sachs disease is a condition caused by a lack of hexosaminidase A (Hex A) enzyme in the brain used to breakdown gangliosidosis (GM2) enzymes or the brain begins to swell,

Tay-Sachs disease is an autosomal recessive disease of lysosome storage characterized by progressive neurologic degeneration. Children affected by Classic Infatile Tay-Sachs disease manifest the first symptoms at around 6 months and die before reaching 5 years of age. The signs and symptoms are severe including deafness, blindness, dementia, and recurrent convulsions during the terminal stage when affected children are confined. When symptoms appear in adolescence or early adulthood, this is called the Late-onset TaySachs disease (chronic form), a rare variant phenotype. A juvenile form is also distinguished, with an intermediate presentation. This appears between ages two to five, but can occur anytime in childhood. This disease was named

Doctors have an important role in honor the patient’s autonomy by let them make their own decision in rather or not to have the embryos screen out for Tay-Sachs disease prior to fertilization. However, in this specific case we should also take in consideration the child’s best interest. The parents have already lost two children for the disease. As health care professionals we know that the couple still have a chance to produce an affected child since both of them are carriers. Therefore, we decided to do the Tay-Sachs PGD screening anyway, implant the healthy embryos and not disclose the fact that PGD was performed. In doing so the parents will have a chance to bear a healthy child who will have higher chance to have the best life possible.

Geneticist- A scientist in the field of genetics Phosphate backbone- A part of DNA that keeps it intact Tay-Sachs- A disease caused by the absence of certain enzymes which ensues problems in the nervous system. This genetic

Running Head: THE SCOURGE OF TAY-SACHS Trosacks Case Study Name of Student School Interdisciplinary Team 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.