If both parents are carriers and they pass the Tay Sachs gene on to their child, the child will have a 50 percent chance of being a carrier; a 25 percent chance of not being a carrier and not having the disease;... ... middle of paper ... ...d symptoms are usually milder than those seen in infants with the condition. Symptoms in adult-onset Tay Sachs include: muscle weakness, loss of muscle coordination (ataxia), other movement issues, speech problems, and mental illness. Adults that have adult-onset Tay Sachs can generally live full lives, though they more than likely will be wheel-chair bound. There is currently no cure for any form of Tay Sachs disease. Therefore, the treatment is focused on controlling the symptoms of Tay Sachs.
Tay-Sachs Abstract 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.
In about 30% of the cases, there is no family history of knowledge of the disorder and the condition, hemophilia, is the result of a ‘spontaneous gene mutation’. ‘Roughly one in every 5,000 males born in the United States has hemophilia and can happen to people of all races and economic groups equally.’ (www.whatishemophilia.com) Small cuts are usually not an issue, but if a more traumatic event occurs, serious problems could arise. There are 3 different levels of hemophilia, mild, moderate and severe. People who have mild hemophilia have between 6% and 49% of the normal clotting factor. Those who suffer from moderate hemophilia have roughly 1& to 5% of the clotting factor and make up about 15% of society that suffers from hemophilia.
INTRODUCTION: Alzheimer’s disease is a neurodegenerative disease mainly affecting people who are above 65 years of age. There have been various hypotheses that try to rationalize the cause of the disease. The major two hypotheses are the Amyloid hypothesis and Tau hypothesis. The amyloid hypothesis states that the aggregation of extra cellular amyloid-beta in the brain is the fundamental cause of the disease and the presence of Amyloid Precursor Protein (APP) on chromosome 21 supports the same. The Tau protein hypothesis states that a hyperphosphorylation of Tau inhibits its function of stabilizing the micro tubules in the brain thereby destroying its function of neuron transport.
Each year a number of children are born with biological defects that impair normal function. For THREE of the following conditions, discuss such aspects as the biological cause, the methods of treatment and possible means of detection and/or prevention.One lethal disorder inherited as a recessive allele is Tay-Sachs disease. This is caused by a dysfunctional enzyme that fails to break down brain lipids of a certain class. The symptoms usually become manifest a few months after birth. Some symptoms are seizures, blindness and degeneration of motor and mental performance.
ADA deficiency is a result of inheriting two copies of the defective ADA gene (in other words it is a recessive disease). Possession of a normal gene leads to the continuous, regular production of ADA in cells throughout the body. Without at least one properly functioning gene, children have no way of converting deoxyadenosine (a waste product) into inosine. This leads to the rapid build up deoxyadenosine in the system, which becomes phosphoralysed into a toxic triphosphate which kills T-cell. The result is an almost complete failure of the immune system and early death.
The first day is the worst, where devastating pain goes to the arm, leg, and back, along with the shortness of breath. The other symptoms of Sickle Cells include: strokes, increased infections, early gallstones, yellow discoloring of eyes and skin, low blood cell counts (anemia), and delayed growth. For the cause of the Sickle Cell Disease, there has been many research going on in the area of gene therapy. Labs around the world are trying to fix the basic genetic defect, by placing the correct amino acid in the hemogoblin before or shortly after birth. This method would result in the cure of the root of the problem.
It happens when our body's system for making white blood cells malfunctions, resulting in the uncontrolled production of abnormal white blood cells that cannot protect us against disease. If left untreated, leukemia can cause death in a matter of months. Simply put, leukemia is a cancer of the blood cells. It usually involves the white blood cells, but in rare cases involves the red blood cells and platelets as well. The disease originates in the bone marrow.
However, three to six months after birth, the symptoms of Tay Sachs disease start to manifest itself. According to the National Human Genome Research Institute U.S. Department of Health and Human Services, Tay-Sachs disease (TSD) also known as acute infantile variant is a fatal genetic disorder that results in a progressive destruction of the nervous system. This genetic disease is more commonly seen and notice in infants about 6 months after birth because the destruction of nerve cells start to shown signs of it. Tay Sachs is known as a progressive neurological disease because it destroys nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A).
Presently there is no treatment for Tay-Sachs. Even with the best of care, children with Tay-Sachs disease usually die by age 5. Tay-Sachs carriers are found most frequently among families of eastern European Jewish descent (Ashkenazi Jews). In the United States today, approximately one in every 27 Jews is a Tay-Sachs carrier. Among Jews of Sephardic origin and in the general, non-Jewish population, the carrier rate is about one in 250.