Wait a second!
More handpicked essays just for you.
More handpicked essays just for you.
Case study of tay sachs disease
Tay sachs disease research paper
Case study of tay sachs disease
Don’t take our word for it - see why 10 million students trust us with their essay needs.
Recommended: Case study of tay sachs disease
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. Death is the result of this disease, in children.
With Tay-Sachs disease, the brain cells of a baby are unable to metabolize gangliosides, a type of lipid, because a crucial enzyme does not work properly. As the lipids accumulate in the brain, the brain cells gradually cease to function normally. Only children who inherit two copies of the Tay-Sachs allele qualifies as a recessive. At the biochemical level, we observe an intermediate phenotype characteristic of incomplete dominance: The enzyme deficiency that causes Tay Sachs disease can be detected in heterozygotes, who have an activity level of the lipid-metabolizing enzyme that is intermediate between individuals homozygous for the normal allele and individuals with Tay-Sachs disease. Heterozygotes lack symptoms of the disease, apparently because half the normal amount of functional enzyme is sufficient to prevent lipid accumulation in the brain. In fact, heterozygous individuals produce equal numbers of normal and dysfunctional enzyme molecules.
At the molecular level, the normal allele and the Tay-Sachs allele are codominant. Sickle-cell disease is caused by the substitution of a single amino acid in the hemoglobin protein of red blood cells. When the oxygen content of an affected individual’s blood is low, the sickle-cell hemoglobin deforms the red cells to a sickle shape. Sickling of the cells, in turn, can lead to other symptoms.
The multiple effects of a double dose of the sickle-cell allele exemplify pleiotropy, which is the ability of a gene to affect an organism in many ways. Regular blood transfusions could be used to ward off brain damage in children with sickle-cell disease. Heterozygotes with the sickle-cell allele may suffer some symptoms of the disease when there is a reduction of blood oxygen. Since the two alleles are codominant at the molecular level; both normal and abnormal hemoglobins are made. Only individuals who are homozygous for the sickle-cell allele suffer from the disease.
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
This is conveyed through a quote from the essay, “Creeps on Campus” as MacKeen states, “David Cash broke no law, except the moral law that commands us to help others.” (Paragraph 3, Line 1) This quote provides leverage to the fact that although Cash demonstrated a lack of morality in his past, he still possesses every right given to him by the constitution to attend a university, on account that he legally broke no law. This same concept is echoed through a quote in the essay from one of Cash’s most peculiar critics, Najee Ali, a former crip gang member, ex-convict and college student. Ali sees Cash as unfit for attending a university based on his perceived lack of morality and remorse pertaining to the tragedy that took place. Ali states, “ I don’t care what type of crime it is, you have a right to compete for an education to better yourself.” (Paragraph 10, Line
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a rear inherited disorder that affects the nerve cells (neurons) in the brain as well as the spinal cord. This disease is an autosomal recessive genetic disorder rather than a sex-linked disorder like some think. In order to inherit Tay-Sachs disease, the gene must be inherited by both parents (Gravel, 2003). If the gene is inherited only by one parent, then the individuals will only be a carrier and has the potential of passing on this disease to their children. The odds of inheriting Tay-Sachs disease if both parents are carriers are 1-4 (25%). The chromosome responsible for the abnormality or mutation that causes Tay-Sachs disease is chromosome 15. Chromosome 15 is the one that codes for production of the enzyme hexosaminidase A (Hex-A) (Gravel, 2003).
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Did you know, that someone suffers from a brain injury every 21 seconds (Haas)? Children get concussions all the time, and most of the time they go unnoticed. The majority of concussions happen when one is playing a sport such as football, hockey, or lacrosse. Many famous athletes have had their careers, even their lives cut short due to concussions. Brain damage and death can result from serial concussions (Schafer). When one suffers from a concussion, one’s brain needs time to recover physically and mentally. Between 2002 and 2006, statistics showed that 52,000 people died from concussions and about 275,000 were hospitalized (Fundukian). Everyone’s recovery process is different (“Injury and Pain Care”). Although concussions seem minor, they are very serious brain injuries that may result in severe damage to one’s brain.
Brady, Erik. “Changing the Game on Youth Concussions.” USA Today 26 May 2011, Virginia ed.: 1C. Print.
Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain and spinal cord. (“Health and Wellness Resource center and Alternative Health Module”). This enzyme helps to break down GM2 or ganglioside, which without the enzyme to break it down, accumulates to toxic levels in the brain causing serious, life-threatening complications.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Three type of this disease are Infant and Juvenile Tay Sachs, Chronic Tay Sachs, and L.O.T.S which is similar to chronic, but occurs later in life.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Infant and Juvenile result in death while Chronic and L.O.T.S result in a life filled with muscular weakness, and trouble doing everyday activities.(“Health and Wellness Resource center and Alternative Health Module”). Tay Sachs can be spotted before the parents have children by either both admitting to a blood test or if they have a CVS, or Chorionic Villus ...
Through sports or through everyday life, concussions tend to happen. An estimated 300 000 sport-related traumatic brain injuries, predominantly concussions, occur annually in the United States. Sports are second only to motor vehicle crashes as the leading cause of traumatic brain injury among people aged 15 to 24 years. (U.S National Library of Medicine). Coaches and parents often do not go through the right procedures or protocols when dealing with a teenager who has received a blow to the head. The usual questions that are asked when there is a head injury are, “what day is it, what’s the score, and how many fingers am I holding up?” Now these are not poor questions, but these questions alone cannot determine if a person has suffered a concussion. The correct method, which they are now implementing in most professional sports leagues, is for anyone with a head injury to take a legitimate concussion test performed by the team doctor. (WebbMD) At present the symptoms can be hit or miss. After receiving a concussion, research shows that an “estimated 80 to 90% of concussions heal spontaneously in the first 7 to 10 days”. (Barton Straus) But, it is important to remember not to return until all symptoms are
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
In this paper, I will argue that genetic therapies should be allowed for diseases and disabilities that cause individuals pain, shorter life spans, and noticeable disadvantages in life. I believe this because everyone deserves to have the most even starting place in life as possible. That is no being should be limited in their life due to diseases and disabilities that can be cured with genetic therapies. I will be basing my argument off the article by “Gene Therapies and the Pursuit of a Better Human” by Sara Goering. One objection to genetic therapies is that removing disabilities and diseases might cause humans to lose sympathy towards others and their fragility (332). However, I do not believe this because there are many other events and conditions in society that spark human compassion and sympathy towards others.
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.
Autism is a developmental disorder that affects the brain's normal development of social and communication skills. Children usually develop this disorder a couple of months after they are born. Bullying is unwanted aggressive behavior that is brought on by peers ranging from physical to mental abuse. Bullying is very common for school age children who are entering middle school for the first time. Both are hard to deal with separately, but imagine having to be dealing with both at the same time.