Tay-sachs Essay, Research Paper
TAY-SACHS DISEASE
This condition, Tay-Sachs Disease, is due to the reduction of a key enzyme. This missing enzyme is hexosominidase and is commonly referred to as Hex A. When this enzyme is missing in lipids (fats), GMZ ganglioside accumulates in inert cells. Hex A is key and is needed to break up and regulate lipids. When GMZ builds up in the nerons, the functions of the nervous system are affected. This leads to mental retardation, damages in the nervous system, and results in death by age 5.
One unique statistic of this disease is that it is found predominantly (but not exclusively) among the Ashkenazi Jewish community. As we relate the areas of the Jewish population in the U.S. to that of Israel, we see the statistic leading to approximately 1 in 67,000 in the U.S. compared with 1 in 14,000 in the Israeli areas.
The statistical information tells us that there is about 5-15% residual activity in Late Onset
Tay-Sachs as it is relatively absent in the infantile form.
The most common symptoms that come along with this disease are: clumsiness, tremors, falls, abnormal behaviors, or mood alterations. The signs of late onset Tay-Sachs can be seen from the period of late adolescence and the mid-30?s. However, this may vary. This is a rather difficult disease to detect simply due to the fact that it is slowly progressive.
More in-depth symptons are: proximal muscle weakness, muscle cramping, especially in the legs at night, muscle wasting, fasiculations (twitching of muscles), lack of coordination, unsteady gait, head tremors, dysarthria (slurred speech), and dystonal muscle contractions causing distortion of posture). Some symptons that are less common of Tay-Sachs are: sensory impairment, chorea (irregular involuntary movements), and seizures. Note that not all of these are present with every person living with Tay-Sachs. Many persons living with this disease undergo great frustration.
In the process of metabolism, the cells age quickly and then die. They must be disposed of and then accumulate in nerve cells along with the unbroken lipids. This slowly deteriorates the nervous system.
Two different genes make up Hex A. Alpha-subunit and beta-subunit are the two genes that make up this protein (enzyme). There is also a third protein to this enzyme, making it a very large molecule. For Tay-Sachs to occur, there must be a mutation in at least one of the parent?s genetic make up on chromosome A15.
Infantile and late onset Tay-Sachs are both forms of autosomal recessive conditions. In order for a gene to be recessive, there must be a mutation in the DNA to prevent it from working properly. Two autosomal recessive carriers have a 25% (1-4) chance of having an affected child.
Late onset affected people have a 100% chance of passing an A-subunit gene with mutation to each of his or her offspring. This gives away to risks of the offspring inheritance of either infantile or late onset forms of this disease.
The Askenazi Jewish population is well known for being at high risk for this disease. This is based upon the information that 1 in 30 persons of Ashkenazi Jewish background is a carrier for this genetic disease. You can compare this with 1 in 300 persons of non-Jewish background. Central and Europeans are not the only culturally basis of high risk. So far cases of non-Jewish persons of French-Canadian ancestry (Cajun population in Louisiana) are becoming more and more at a higher risk. These two groups have approximately 100 times the rate of occurance than other ethnic groups.
To determine if you are a carrier, a simple way for going about this is to take a blood test. By doing so, the amount of Hex A is measured from your blood.
From blood tests genetic testing is also available. Sometimes genetic testing is recommended after unpleasant blood tests.
Tay-Sachs is often referred to as Juvenile, chronic, or adult-onset forms of Hex A deficiency. As we can see, the infantile form of Tay-Sachs often results in death by age 5. This is the classic and most severe of the various types. The adult-late set forms are more mild, but severe in many ways yet. Their symptoms also develop later in life.
There aren?t currently any known treatments that will prevent Tay-Sachs, only medicines that make the person living with Tay-Sachs more comfortable. These are used to manage the symptoms. However, anticonvolutants are used for patients who experience seizures. Antidepressents are available for
those going through frustration and psychiatric problems. Gene therapy is being experimented with for future treatments.
I liked using two resources. The Merill Text provided the basis of my information. However, it was a bit complicated and that is when I referred to the information provided from the Baby Net. They were both useful.
Другие работы по теме:
Scarlet Letter Essay Research Paper The Letter
Scarlet Letter Essay, Research Paper The Letter A The novel The Scarlet Letter was set in the Massachusetts Bay colony in the 17th century. Hester Prynne, her illegitimate daughter Pearl, her ex-husband Roger, and the
Arthrosis Essay Research Paper Arthrosis from arthro
Arthrosis Essay, Research Paper Arthrosis (from ?arthro-?, meaning ?joint,? and ?-osis?, meaning ?abnormal condition? or ?disease,?) means a degeneration of the shoulder joint. While the shoulder generally functions with strength and fluidity, the smooth movement of the joint eventually breaks down with age or heavy use.
Pysch Essay Research Paper Research Methods is
Pysch Essay, Research Paper Research Methods- is when you make and test prediction of the relations between variables. Its the study of behaviour. Variables is any condition, event, characteristic or behaviour.
Waxing A Snowboard Essay Research Paper How
Waxing A Snowboard Essay, Research Paper How to wax a snowboard There several ways to go about waxing a snowboard. Firs you have to determine what conditions you will be riding in. Then you will have to choose a wax. Say you are going to Vail and
Tay Sachs Research Paper Essay Research Paper
Introduction There are many genetic diseases in the world. All genetic diseases are inherited from one’s parents. Through Gregor Mendel’s studies of genetics, it is possible for people to determine whether or not an individual will inherit a genetic disease. All genetic disorders are recessive traits (Campbell).
Depression Essay Research Paper Depression
Depression Essay, Research Paper Depression Depression, it is defined by Webster’s Unabridged Edition Dictionary as: in psychology, an emotional condition, either normal or pathological,
TaySachs Disease Essay Research Paper Taysachs disease
Tay-Sachs Disease Essay, Research Paper Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain.
Tay Sachs Essay Research Paper TaySachsTaySachs disease
Tay Sachs Essay, Research Paper Tay-Sachs Tay-Sachs disease is a genetic disorder that occurs in children. This disease causes their central nervous system to breakdown, which in turn is the basis for their death. The disease is named for Warren Tay and Bernard Sachs.
Change Essay Research Paper Change as changing
Change Essay, Research Paper Change as changing times and techology…………….. People often use these terms without realizing that word CHANGE has neither a denotation nor a connotation of advancement,improvement or progress; a change can take place at any direction: forward, backward, up and downward!
Pituitary Dwarfism Essay Research Paper The Pituitary
Pituitary Dwarfism Essay, Research Paper The Pituitary Gland is situated at the base of the brain and it produces hormones which control growth. Too large an amount of these hormones causes giantism, a condition where facial features, hands, etc. become abnormally large. Too little causes dwarfism, where the overall stature of a person is very small.
Religion Mencius Essay Research Paper The Eastern
Religion: Mencius Essay, Research Paper The Eastern religions often focus on the human nature and condition. And such was the case for Mencius. Mencius devoted himself to expanding and elaborating Confucius? previous notion of human nature. Since the Eastern religions did not focus on a Wholly Other, and rather the here-and-now, such spiritual matters had to be related in a more tangible means.
Process Of Meiosis Essay Research Paper Meiosis
Process Of Meiosis Essay, Research Paper Meiosis is the reproduction of sex or germ cells in which there are two divisions required to complete the process. They are called meiosis I and meiosis II. In meiosis I, members of homologous pairs of chromosomes divide into two complete sets. There are four stages: prophase I, metaphase I, anaphase I, and telophase I.. -Prophase I is the first phase in meiosis I.
Cold New World Essay Research Paper Cold
Cold New World Essay, Research Paper Cold New World: Summary Just from reading the introduction I feel that “Cold New World is a perfect title for this novel. The author tells about his shift into a known, but unknown new place. I have been living in America for twenty-one years and I would have to agree with the author when he says that this country was (and is) in a strange, even an unprecedented condition.
Forgotten World Essay Research Paper Select a
Forgotten World Essay, Research Paper Select a reading assignment and teach it to the class, providing a short synopsis of the reading and raising questions that facilitate classroom discussion about how or whether the main character is struggling to recognize, reflect on, realize, and/or reinvent a particular self:the social,political, economic, or cultural factors that influence the selfexpression, experiences, and condition of the main characters the choices available to or made by the main character and how the story of the main charaxter has meaning for today’s women.
Goethe Faust Essay Research Paper GoetheJohann Wolfgang
Goethe Faust Essay, Research Paper GoetheJohann Wolfgang von Goethe s work Faust was an elemental romantic work. Faust, the main character of Faust, was similar to Prometheus or Napoleon, one who ventured for power to rule the world. For example in Goethe s Faust, the proud condition of human nature can be seen by the way Faust was willing to sell his soul to better himself.
Asdfasf Essay Research Paper font facetahoma size4
Asdfasf Essay, Research Paper *font face=tahoma size=4 color=red**b*Leblanc Normandy Clarinet – 1964.*/b* *font face=tahoma size=2 color=black*Plastic. All original pieces and parts*br**br* *B*RARE*/B* *font color=red**b*Special Edition – Plateau keys!!!*/b**/font color**br*
Alas Babylon Essay Research Paper Alas Babylon
Alas, Babylon Essay, Research Paper Alas, Babylon Essay In the book Alas, Babylon, the author, Pat Frank, discusses the condition of the human race. Mainly, his view differs from others because rather than write about the countries in a nuclear war, he writes about people living in the countries that are involved in that war.
Poetry Research Paper Essay Research Paper Poetry
Poetry Research Paper Essay, Research Paper Poetry can both broaden and intesify an experience9…0 it can also illuminate, clarify, and deepen an occurence in a way a reader never considered.9…0poetry communicates expereince by appealing to both the thoughts and feelings of its reader.Poetry demands total response from the individual-all the intellect, senses, emotion, and imaginaTION. (CL)
Anorexia And Bulimia Essay Research Paper ANOREXIAAnorexia
Anorexia And Bulimia Essay, Research Paper ANOREXIA Anorexia or other wise know as Anorexia Nervosa, is a condition characterized by fear of gaining weight or becoming obese, as well as a distorted body image or in other words, someone who thinks that they are fat when they are probably already too thin. Such a distorted image can lead to an excessive weight loss from stopping food intake and or excessive exercise.
Reflection As Revision Essay Research Paper Reflection
Reflection As Revision Essay, Research Paper Reflection as RevisionAll through life I have always been told by people that it’s quality not quantity that matters. I cannot even remember the first time I heard it. If I only had a dollar for every time I was told that. If ever asked for the ultimate clichi, I would have to say quality not quantity.
Yellow Journalism Essay Research Paper Did Boris
Yellow Journalism Essay, Research Paper Did Boris Yeltsin really resign? The people of Russia were led to believe that on New Years Day, January 1st, President Boris Yeltsin suspiciously and suddenly resigned. Some people claim he was to old and to senile to finish his presidential term, others claim he was too sick, deathly sick, others claim he was just fed up with the horrible condition of the Russian Government.
Web Site Development Essay Research Paper I
Web Site Development Essay, Research Paper I propose to develop a web site for anyone in the sunglass, contact lens, colored contact lens or laser vision correction market. The most important