This website uses cookies to ensure you have the best experience. Learn more

Canavan Disease Essay

949 words - 4 pages

Canavan disease is a rare neurological autosomal recessive disorder that can only be inherited if both of the parents of the offspring have a certain mutated gene. This mutation makes it so that the enzyme called aspartoacylase, or ASPA for short, is absent in the brain. Aspartoacylase breaks down the compound called N-acetyl-L-aspartic acid (NAA) into materials to make myelin, or white matter. The chances of having a child with Canavan disease would be one out of four, or 25 percent. However, there is a fifty percent chance that an offspring will be a carrier for the disease. It also occurs in many families with no history for Canavan disease before.

Canavan disease is included in a ...view middle of the document...

To simply state what happens to the brain, it would be as follows: spongy degeneration of the brain and nervous system. What that means is that the white matter, the part of the brain houses the nerve fibers covered in myelin, of the brain that is reduced to sponge. Essentially what this causes is a loss of sensory, motor, and intellectual functions in the affected individual. The eyes are also an affected body part, as they go blind. However, the child can still hear their parent perfectly, but deafness can also occur. Muscles get affected too, making them very weak and having poor tone, which is known as hypotonia. This weak muscle makes it so that the child cannot sit upright on its own without being supported. They also cannot crawl because of this poor muscle, keeping the poor children in a wheelchair.

Canavan disease gives a very short span of life for those who have and are affected by it. Most people who have the disease live to about ten years old or younger. However, some individuals can live into their teens and twenties, but usually not more than that. Also, there is currently no treatment or cure (yet) for Canavan disease. Being supportive of research foundations and the affected individual can make people feel a lot better about a cure or treatment. Research is getting close to finding a treatment though. Scientists have already found the gene that causes Canavan disease, which is located on chromosome number seventeen. They are also currently researching treatments. Right now, there are three treatments being researched : gene transfer to the brain, metabolic therapy, and enzyme therapy. Drugs, like lithium citrate, are also being researched and investigated to see if they would help treat or even cure Canavan disease. If one of these proposed treatments actually work, it would be a major breakthrough and...

Find Another Essay On Canavan Disease

Yogurts Effect on Constipation Essay

1840 words - 7 pages devour enemy bacteria, somewhat similar to vacuum cleaners. (Mitchell, Patricia B.) The intestines are home to various bacteria which assist in the absorption of food and minerals. When the colon is healthy, there can be the growth of advantageous bacteria which fights off disease-causing bacteria by making the conditions of the intestines harsh for their development. Other bacteria which are useful to the intestinal system are from the bacteria

The Heated Debate Concerning Stem Cell Research

3493 words - 14 pages they love. Jordana Sontag has a 3-year-old-son suffering from Canavan disease, a disease which causes degeneration of the brain, leaving victims unable to move, speak, or see and causing death before adolescence. She says, "If anything’s going to cure my child, it’s going to be this."11 Michelle Puczynski, 15, who suffers from juvenile diabetes says, "If they don’t do this they are taking lives away from people, and they are pretty much taking my

When the Bubble Burst

1539 words - 6 pages By the time I arrived state side from my second tour in the Middle East the housing bubble had already burst. I noticed a drastic change in the way that many of my friends and family were living. Several of my friends that worked in real estate had sold their boats and seconds houses. My own stock portfolio had lost a third of its value. My sister and her husband had defaulted on their home mortgage leaving them scrambling for a place to live. I

phase diagram

4456 words - 18 pages Introduction: Chemical equilibrium is a crucial topic in Chemistry. To represent and model equilibrium, the thermodynamic concept of Free energy is usually used. For a multi-component system the Gibbs free energy is a function of Pressure, Temperature and quantity (mass, moles) of each component. If one of these parameters is changed, a state change to a more energetically favorable state will occur. This state has the lowest free energy

Revolutionary Work of Art

1890 words - 8 pages Walter Benjamin emphasizes in his essay, “The Work of Art in the Age of its Technological Reproducibility” that technology used to make an artwork has changed the way it was received, and its “aura”. Aura represents the originality and authenticity of a work of art that has not been reproduced. The Sistine Chapel in the Vatican is an example of a work that has been and truly a beacon of art. It has brought a benefit and enlightenment to the art

Enlightenment Thought in New Zealand Schools

1594 words - 6 pages In this essay I will be looking at how the political and intellectual ideas of the enlightenment have shaped New Zealand Education. I will also be discussing the perennial tension of local control versus central control of education, and how this has been affected by the political and intellectual ideas of the enlightenment. The enlightenment was an intellectual movement, which beginnings of were marked by the Glorious Revolution in Britain

Psychological Egoism Theory

2240 words - 9 pages The theory of psychological egoism is indeed plausible. The meaning of plausible in the context of this paper refers to the validity or the conceivability of the theory in question, to explain the nature and motivation of human behavior (Hinman, 2007). Human actions are motivated by the satisfaction obtained after completing a task that they are involved in. For example, Mother Teresa was satisfied by her benevolent actions and

How Celtic Folkore has Influenced My Family

1587 words - 6 pages Every family has a unique background that influences the way they live and interact with other people. My parents, who emigrated from Ireland to the States with my three brothers in 1989, brought over their own Celtic folklore and traditions that have helped shaped the way our family operates and lives. One aspect of folklore that has helped shape my family dynamic is the Celtic cross—both its background and what role it has played in our lives

Julia Margaret Cameron

1406 words - 6 pages At a time when women were looked upon as being homemakers, wives, mothers and such the late 1850's presented a change in pace for one woman in specific. Photography was discovered in 1826 and soon after the phenomenon of photography was being experimented with and in turn brought new and different ways of photo taking not only as documenting real time, but also conceptualizing a scene in which an image would be taken. Julia Margaret Cameron will

Evaluation of School Improvement

1403 words - 6 pages The evaluation process should be progressive to incorporate overall planning, implement changes, which contribute to success. In order to focus on school climate and norms, the evaluation design must include the students, instructions, and outcomes to improve communication and building-level concerns to be address in this response. School Climate and Social Norms The school principal, other staff leaders, and personnel set the tone and the

Case Study: The Benefits of Animal Testing

1757 words - 7 pages consumers.  Though some may disagree, animal testing is both beneficial and practical to the well being of both humans and animals. Animal testing saves countless lives and plays a practical role in medical advances. According to the Center for Disease Control and Prevention, heart disease is the leading cause of death in the United States. In 2009, heart disease claimed the lives of some 616,067 people (“FastStats”). However, due to the continuous

Similar Essays

Gerontology Agencies Within Georgia Essay

2427 words - 10 pages Section I. Food Insecurity Aging Society: The United States is experiencing social issues related to food insecurity and hunger. Current research states that older adults are especially vulnerable to food insecurity. In a study published in the Journal of Urban Health states, “Among the 14.6% of American households experiencing food insecurity, approximately 2 million are occupied by older adults” (Chung, Gallo, Giunta, Canavan, Parikh

A Genetic Engineering Revolution Essay

1020 words - 5 pages genetically transmitted diseases in the human race such as Angelman syndrome, Canavan disease, Color blindness, Cystic fibrosis, Down syndrome, Duchenne muscular dystrophy, Neurofibromatosis, Phenylketonuria, Sickle-cell disease, and Turner syndrome to name a few. Many of these either are caused by mutations of chromosomes and genetic information during meiosis or are dormant traits passed on from generation to generation manifest only in some

Cervical Cancer And The Hpv Vaccine Controversy: Where Are The Men? Where Is The Money?

1800 words - 7 pages HPV Vaccination Cervical cancer is the leading cause of cancerous death, in women, since 1950. Approximately 200,000 cervical cancer patients die each year in developing countries. Strains like HPV 16 and 18 cause about 70% of cervical cancer in women– one of the top causes of death in the world (WebMD, 2010, p.1). In the Unites States, about 10,000 women acquire the disease and 3,700 die annually Human Papilloma Virus (HPV) is directly

Food Insecurity In Aging Essay

1813 words - 8 pages Section I. Food Insecurity Aging Society: The United States is experiencing social issues related to food insecurity and hunger. Current research states that older adults are especially vulnerable to food insecurity. In a study published in the Journal of Urban Health states, “Among the 14.6% of American households experiencing food insecurity, approximately 2 million are occupied by older adults” (Chung, Gallo, Giunta, Canavan, Parikh