DNA Disease Research Paper by Taysach

Freshman (College 1st year) ・Biology ・MLA ・7 Sources

Genetic disorder is defined as the result of mutation or changes in the DNA of an individual. Mutation is when the DNA sequence is altered to form a gene. Simply put, genetic disorder is the partial or full change in the sequence of DNA in many genes due to environmental and gene mutation factors. There are several types of genetic disorders such as the single gene inheritance, which occurs due to the change in the DNA sequence of the individual gene (Stoppler). The second type of the genetic disorder is the multifactorial inheritance caused by the combination of the mutations and environmental factors. Chromosome abnormalities is also another type of a disorder. The last type of genetic disorder is the mitochondrial inheritance caused by the alteration in the non-nuclear DNA of the mitochondria. Most of this genetic disorders are inherited from the parents, but mutations in a pre-existing gene. The gene is encoded in the residing organism genetic materials which are usually the RNA or DNA, and they are in charge of the behaviour or physical development of the organism. During the time of reproduction, the genetic substance is transferred from the parent to the offspring. The paper discusses in details the Taysach's disease on a range of issues such as the cause of the disease, treatment, and signs (McPartland 157).

Taysach's disease is a genetic disorder that in most of the case it occurs in children, resulting to the progressive interference with nervous system of the spinal cord and brain cells. Taysach's disease does not occur frequently in children. The most common known type of the Taysach's disease affect children at infancy. The condition appears in children when there are between three and six months old, at this particular stage the development of the child slows down which weakens their movements. The Taysach's disease is inherited in the autosomal recessive pattern which implies that the two copies of the gene on every cell is changed. (PubMed Health). In most of the case, the parents of the child suffering from the disease with the autosomal recessive disorder are the carriers of the duplicate of the altered gene but do not have symptoms and sign of the disorder. The Taysach's disease is an autosomal recessive condition because it is caused by the gene HEXA situated on the chromosome 15 of the autosome. The autosomal recessive means that the gene is located on one of the autosomes. The disease is not sex-linked because it is not located on the sex chromosome X or Y. The genotype of the Taysach's is the heterozygous Rr on chromosome 15, that is involved in the production of the Hexosaminidase A protein in charge for the breakdown of the fatty acids in the human body which is known as the gangliosides.

The symptoms of the Taysach's disease in normal circumstance start developing at the age of 3-6 month in the child life. The initial sign of the infantile Taysach's disease in children include of the following; a red dot visible near centre of the retina, poor vision, increased startle response and the delayed learning development (District of Columbia Department of Health). With time the disease grows fast with new signs and symptoms which evolve to became for serious. At this particular stage the sign comprise of muscle weakness, dysphagia, disinterest in the environment, susceptible to infection, muscular spasticity, vision loss, seizure, paralysis. Children with the Taysach’s disease in most cases are very vulnerable to infection than other children of their age which increase with time. The condition can lead to the contamination of the lung that causes death in good number of the children. Children who show the signs of the disease at their early childhood do not survive beyond four years. Still on the symptoms, some of the children do not show sign of the illness until their late childhood. At this stage the child had difficulty in the development of speech and the motor skills, as well as the struggle to walk and move because of problems in balance. Some of them may have difficulty in swallowing and learning to talk due to the condition. At the stage of late childhood a child experience problems with vision and eventual loss of the sight. Other problems at this stage is a loss of signs of awareness leading to severe in the interaction with the environment. In summary, the symbol in late childhood comprises of severe tremor, muscle weakness, cramps and twitching, reduced coordination and balance, and speech difficulties.

The phenotype of the disease is HEX A pseudo deficiency. Taysach's disease defect result from a gene located on the chromosome 15 codes responsible for the manufacture of the enzyme Hex-A. If both either Hex-A genes are active, the system produces the required amount of protein to avoid the abnormal build up in GM2 ganglioside lipid. According to different research conducted out so far there no benefit of the Taysach's disease.

There are different causes of the disease which ranges from genetic to environment factors. The primary cause of the disease is the change in mutation in the HEXA gene. In any circumstance, the gene of the body provides the guide on the production of proteins that play a crucial role in the functioning of the body. When mutation of the gene is experienced in the body in most cases the protein product may be at absent, inefficient or faulty, which may affect the organs of the body such as the brain cells. The illness is hereditary which show that it is passed from generation to generation.

Currently in the world no cure or treatment of the Taysach's disease has been discovered (Kaback). The medication available aims at making the life of those living with the condition to be comfortable as much as possible Palliative care comprise of the following; physical therapy which is fundamental in the keeping of joints flexible as well as maintain the ability to move. Feeding tube are also essential in the treatment of the disease when a child develops respiratory problems through the inhalation of liquids or food in to the lungs in the process of eating. Children suffering from the disease can also be treated through the application of the respiratory care. In most cases children suffering from the disease are exposed to high risk of lung infections that cause breathing problems accompanied by mucus in the lungs. Respiratory care helps in chest physiotherapy. Oral medication is also a way of treating the disease to reduce the child's symptoms. Constant emotional support from the family member is also vital towards the treatment of Taysach's disease as well as increased connection with support groups can assist in dealing with the situation (Mayo Clinic). Other treatment includes the follow-up care and coordination whereby the doctors check on the patients on a regular basis.

The Taysach's disease is a rare occurrence in the human population. The Taysach's disease is commonly found among the people of Ashkenazi located in the eastern and the central parts of Europe. Other group of people who are most affected by the disease are the Jewish and French with the Canadian ancestry at a times it may occur in an ethnic community.

The disease is diagnosed through carrying out prenatal test such the chorionic villus sampling and the amniocentesis which are performed on a mother who is pregnant between ten and twelve week of the pregnancy. The complication of the disease include seizures, muscle spasticity and the loss of control of movement (Genetic Home Reference).

Work Cited

Stoppler, M. “MedicieNet.com.” Genetic Diseases Overview, 2017. https://www.medicinenet.com/genetic_disease/article.htm

“PubMed Health.” Tay-Sachs Disease, Accessed 25 Nov, 2017 https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/

“District of Columbia Department of Health.” Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals 2010, accessed 25 Nov 2017. https://www.ncbi.nlm.nih.gov/books/NBK132145/

Kaback, M. “National Organization for Rare Disorder.” Tay Sachs Disease, 2017. https://rarediseases.org/rare-diseases/tay-sachs-disease/

“Mayo Clinic.” Tay-Sachs disease, Accessed 25 Nov 2017. https://www.mayoclinic.org/diseases-conditions/tay-sachs-disease/care-at-mayo-clinic/treatment/con-20036799

“Genetic Home Reference.” Why are some genetic conditions more common in particular ethnic groups? Accessed Nov 2017. https://ghr.nlm.nih.gov/primer/inheritance/ethnicgroup.

McPartland, Randall. Tay-Sachs disease. New York : Cavendish Square, 2016.

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