Genetics of Chronic Pain States - Essay Example

of the of the of the Genetics Genetics is a science that studies the transfer of genes from one generation to the other. Genes determine the specific traits of individuals; such as appearance, height, hair color, skin color, and the color of the eyes (Heredity and Genetics). In addition, heredity has considerable bearing on the susceptibility of individuals to certain types of disease, their mental capabilities, and innate talents. The human cells consist of 46 chromosomes. Of these, two are sex chromosomes and 22 pairs are autosomal chromosomes. The sex of a human being is determined by the combination of these chromosomes; and males have a combination of 46, XY chromosomes, while females have a combination of 46, XX chromosomes. These chromosomes consist of strands of genetic information, which are termed the DNA. Genes are parts of the DNA, and their location is known as the locus. Genes produce protein in human bodies through the information present in them. An autosomal chromosome from the mother and the father, constitute a pair of chromosomes that carry information that is by and large the same (Genetics). The genes in different persons will be almost similar, with slight variations. In the DNA, these variations, which transpire in less than 1% of the DNA sequence, produce alleles. The abnormality of a gene results in abnormal protein, or an abnormal quantity of a normal protein. The pairs of autosomal chromosomes contain a gene from the mother and a gene from the father. If both these genes are healthy, then the pair is termed a healthy pair. If one of the genes is defective, and if the other gene produces extra amounts of proteins to prevent disease; then the disease is termed as recessive. Moreover, the gene is deemed to have been inherited in a recessive manner (Genetics). In some cases, just one gene will be responsible for causing a disease. This is described as a dominant hereditary disorder. In such disorders, if one abnormal gene is inherited from a parent, then the child is likely to develop the disease. An individual with one abnormal gene is termed as heterozygous for that gene. Children, who receive an abnormal recessive disease gene from both the parents, develop the disease; and are rendered homozygous for that gene. If both the parents have a copy of a recessive disease gene, then each of their children, has a one in four, risk of developing that disease. If one of the parents has two copies of the recessive disease gene and the other parent has one copy, then each of their children, has a 50% chance of being homozygous for that gene (Genetics). There are a number of diseases that owe their origin to mutations in the genes. These mutations form variants of the genes. Moreover, such mutations render an individual susceptible to being afflicted by diseases. Genetic science provides knowledge, regarding genetic variants. In addition, such knowledge is indispensable for discovering novel treatment practices and interventions, for effecting a complete cure, and in preventing the occurrence of the disease. Susceptibility genes contribute to the development of disease; nevertheless, under monogenic conditions, mutations almost always lead to disease (Cornélis 458). The structure of the DNA was determined by James Watson and Francis Crick in the year 1953. A half century later, in 2003, mankind has accomplished the awe inspiring task of recording one complete human DNA sequence. The magnitude of this achievement can be gauged from the fact that this DNA sequence consists of some 3 billion letters of genetic code (The Human Genome Project). Scientists are now experimenting with cures for ailments, through the replacement of malfunctioning genes with healthy genes. This has generated hope for the treatment of terminal diseases, like cancer. There has been a measure of success, in such interventions, and positive results were noticed in the treatment of cancer and cystic fibrosis, with this technique (Ethics, Genetic Technologies, and Social Responsibility). Furthermore, genetically engineered vaccines were found to be of substantial use in the treatment of HIV/AIDS (Microsoft Encarta Online Encyclopedia). A large number of diseases are due to genetic factors. Therefore, genetic disorders are usually responsible for disease. These include single gene defects, chromosomal disorders and multifactorial disorders. Single gene defects or Mendelian disorders are rarely encountered. However, as there are nearly 18,000 single – gene disorders, in combination their effect is substantial. Single – gene disorders are inherited, by means of six patterns. These are autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, Y-linked inheritance, and maternal or mitochondrial inheritance (Genetics). Genetics has improved the conviction rate of criminals. Forensic experts collect traces of semen, blood, skin cells, or hair from the scene of the crime. These samples contain DNA, which after being analyzed, is compared with that of the suspect. Every individual’s DNA is unique; and the courts permit DNA reports, to be submitted as evidence. Genetics is also used in some industries, where it simplifies the manufacturing methods (Port). It is also an important system, in the production of drugs and essential medicines (Microsoft Encarta Online Encyclopedia). Genetically treated bacteria are helpful in the mass-production of proteins. For instance, insulin is produced through genetically altered bacteria; and this is of great use to people suffering from diabetes mellitus. In children, growth hormone supplements have proved to be of great use in treating growth disorders. Gene therapy is a novel medical intervention that has been employed in the treatment of a number of terminal diseases (Microsoft Encarta Online Encyclopedia). The past two decades have witnessed outstanding progress in pathology and genetics. As a result of this progress, treatment in the areas of Renal Cell Carcinoma and Adenoma has developed to a significant extent. In the past, knowledge regarding Renal Cell Carcinoma was limited and scientists considered it to be a single ailment. However, with increased knowledge in genetics and pathology, researchers have found that there are numerous tumors with several phenotypes (Störkel, Kristiansen and Moch 603). Renal cell tumors, generally assume an infrequent or hereditary form. Moreover, extensive research in cytogenetics and molecular genetics has resulted in a deep understanding, regarding phenotypes and genotypes in renal cell carcinoma, and their interrelations (Störkel, Kristiansen and Moch 604). Some of the chromosomal disorders are the Down syndrome and Turner syndrome. They transpire due to the surfeit or deficiency of genes in a chromosome or a segment of a chromosome. The interaction of genes has been deemed to be the cause of most of the diseases, such as the different types of cancer, coronary heart disease, stroke and hypertension. These are some of the most researched areas in genetics (Health Guiude. Genetics). Pedigree denotes the pattern of transmission of single gene disorders in a family. Moreover, the relatives who are not inside the nuclear family constitute the kindred, and the term proband is employed to describe the affected individual. The individuals, who constitute the brothers and sisters of the affected individual, are termed as siblings. The single gene inheritance patterns are: autosomal dominant, autosomal recessive, X – linked dominant, X – linked recessive, and Maternal or mitochondrial inheritance (Health Guiude. Genetics). In order to create a favorable protein, or to introduce genetic matter into cells to offset abnormal genes; recourse is had to gene therapy. For instance, it may be possible to use gene therapy to introduce a normal copy of a gene, in order to restore the function of a protein that had been rendered defective or absent, by a mutated gene. In the normal course, the direct introduction of a gene into a cell, does not achieve the desired objective (How does gene therapy work?). Consequently, a genetically engineered vector or carrier of the gene is utilized for this purpose. A significant procedure to this end has been the use of certain viruses, which have been seen to infect the cell and thereby introduce the new gene. As a measure of abundant precaution, these viruses are suitably transformed; so that they do not engender disease, on being introduced into a human (How does gene therapy work?). The interventions of these viruses depict considerable variation. Some viruses bring about an amalgamation of their genetic material and the new gene into a chromosome in the human cell; instances of such viruses are the retroviruses. On the other hand, the adenoviruses and their ilk; bring about an introduction of their DNA into the cell’s nucleus, with integrating the DNA into a chromosome (How does gene therapy work?). The introduction of such viruses can be either injected or intravenously into some definite human tissue. There is another method available, in this regard, namely that of extracting a few cells from the patient, and then exposing them to carrier. Thereafter, these cells are replaced in the patient. The formation of a functioning protein, signals the success of such treatment (How does gene therapy work?). The mistaken belief that Parkinson’s disease was not hereditary was dispelled with the recent identification of three genes that were established as being responsible for this ailment. In addition, five other genes were found to have a bearing on the occurrence of the infrequently encountered familial forms of this disease. Studies have been conducted on the variants of genes, α-synuclein (PARK1), parkin (PARK2), and ubiquitin-C –hydrolase-L1 (PARK5) (Lansbury Jr and Brice 299). These studies were conducted, in order to clarify the role of these genes in familial Parkinson’s disease pathogenesis. Therefore, genetic information is indispensable for recognizing the new treatment targets and identifying the preclinical phase of this disease. Such recognition of the disease makes it possible to commence treatment at a much earlier stage of the disease (Lansbury Jr and Brice 299). There are common chronic pain states in the general population; and genetic factors have contributed, significantly to understand these different states. Generalized pain sensitivity and a number of other symptoms are discernible in Fibromyalgia syndrome (FMS) and related conditions. The result of various studies has led to the conclusion that FMS and its associated conditions are hereditary (Buskila 535). Thus, genetic factors have a significant bearing on the development of these conditions. Further research in this area has indicated the importance of polymorphisms of genes in serotoninergic, dopaminergic, and catecholaminergic symptoms in the pathogenesis of FMS and other conditions. Moreover, environmental conditions can aggravate the development of genetic disorders in genetically susceptible individuals (Buskila 535). However, the precise role of genetic factors has yet to be determined; and considerable research work, in this area is the need of the hour. Genetic factors are also responsible for osteoporosis, and research studies in twins and in normal families, have revealed that nearly 85% of the variation in bone mineral density, is a under genetic influence. They also control, osteoporotic fracture risk factors, such as ultrasound attenuation and bone turnover (Ralston 85). These discoveries suggest that osteoporotic fracture depends on heredity and not just bone mass. This observation has been corroborated in instances of hip fracture, wherein heredity proved to be of greater significance than bone mass. There is considerable confusion regarding the exact molecular – genetic mechanisms that determine the various factors involved in fracture risk. However, it is believed that a large number of genes with comparatively smaller effects, rather than a small number of genes with a large effect, are involved in this process (Ralston 85). The human genome research project has generated considerable interest in genetic testing. This research has resulted in a number of path breaking developments. One of the principal benefits of such research is that it provides results that entail an element of finality, and it also affects all the members of a particular family. It is the trait of genes to determine the diseases that individuals inherit from their parents (Cornélis 458). Genetics has achieved remarkable results in several areas; such as agriculture, food products, in the treatment of diseases and in the identification of criminals. It is used in agriculture to modify the gene-structure of plants and animals to make them more productive. Consequently, in genetically modified crops the yield is greater, and some of these crops have acquired the capacity to resist pests and insects. Moreover, genetically modified tomatoes and apples, depict more attractive color. In addition, the genetically treated cows produce more milk, in comparison to ordinary cows (Microsoft Encarta Online Encyclopedia). The study of genetics provides innumerable benefits to mankind. Gene therapy effects cure for many diseases, by supplanting defective genes. Some of the major ailments that have been cured by gene therapy are a few of cardiac and autoimmune diseases. Such intervention has also proved to be of great use to pregnant women, in detecting genetic defects in their unborn babies. The results of these screenings enabled the physicians to make arrangements, where necessary, for children who would have special needs. As such, Genetics Research proved to be beneficial to life. Works Cited Buskila, Dan. "Genetics of chronic pain states." Best Practice & Research Clinical Rheumatology 21.3 (2007): 535 – 547. Cornélis, François. "Genetics and clinical practice in rheumatology." Joint Bone Spine 70.6 (2003): 458 – 464. Ethics, Genetic Technologies, and Social Responsibility. 14 March 2001. 21 December 2009 . Genetics. 30 November 2009 . 18 December 2009 . "Health Guiude. Genetics." 25 June 2007. The New York Times. 20 December 2009 . Heredity and Genetics. 21 December 2009 . "How does gene therapy work?" 13 December 2009. United States. National Library of Medicine. National Institutes of Health. 20 December 2009 . Lansbury Jr, Peter T. and Alexis Brice. "Genetics of Parkinsons disease and biochemical studies of implicated gene products." Current Opinion in Genetics & Development 12.3 (2002): 299 – 306. Microsoft Encarta Online Encyclopedia. Genetics. 18 December 2009 . Port, Tami. DNA Fingerprinting & Crime Retrial. 29 March 2008. 21 December 2009 . Ralston, S.H. "The genetics of osteoporosis." Bone 25.1 (1999): 85 – 86. Störkel, Stephan, Glen Kristiansen and Holger Moch. "The Importance of Pathology and Genetics for the Diagnosis and Therapy of Renal Cell Carcinoma." European Urology Supplements 6.10 (2007): 603 – 610. "The Human Genome Project." 3 December 2009. Wellcome Trust Sanger Institute. 21 December 2009 . Read More