Contemporary Cell Biology Techniques - Essay Example

CONTEMPORARY CELL BIOLOGY TECHNIQUES Student’s Name Course’s Name Professor’s Name University’s Name City, State Date of submission Contemporary Cell Biology Techniques Introduction Understanding diseases that occur as a result of gene mutation are essential in learning how common genetic disorders occur and are inherited and spread from one living organism to the other (Kumar, 2017). To do this, the gene that codes for a given protein is identified through either experimentation or study of the gene expression in an effort of regulating the disease. In this essay, a rare disease has been found to be due to a mutation in a gene X that codes for an orphan protein called protein X. the initial assertion of the assignment is that the function of the protein is unknown. Therefore, the assignment aims at analysing and providing an understanding of the function of protein X and how it works to regulate its gene. Based on the cell biology techniques talk in the module, this essay incorporates different biological techniques to shed light on the possible functions of the unknown protein. Besides, the different dysfunctions that may occur as a result of the mutation found in the disease are also examined. The revelation provided by each technique examined are highlighted as well as how a combination of the different techniques contributes to an understanding and advancement of the role played by the protein in the cell. There are many reasons why one might want to express and purify the proteins that encode a gene. In the module, the aim of molecular biology was introduced as encompassed in need to understand life at the molecular level. There are many different and yet essential roles of proteins in living organisms, and thus an understanding of their role is essential in molecular biology. It is essential that living processes can be broken down into individual steps that are much easier to study than entire processes. Analysing and studying the properties of individual proteins is essential in understanding the properties in which they participate (Karen, 2017). Various studies can be carried out about the study of proteins and their functions in genes. Some of the major concepts that will be inculcated in this essay are live imaging techniques, genetic techniques such as the manipulation of the gene in live animals and localized studies carried out in high resolution. Besides, other techniques that will be investigated include immuncytochemical techniques and electrophysiological and biochemical methods in an effort of revealing the functions of the protein. The expression of the gene and the protein are also utilized as identifiable techniques in determining the tissue specificity of the protein and how it emerges and is expressed within the life cycle of the organism (Kumar, 2017). A genetic disease arises from a faulty gene or a group of genes. However, not all gene defects are responsible for causing diseases and abnormalities. Scientists discover new and recurring genetic conditions and diseases. According to 2001, statistics from the biological references, there were approximately 1,100 genetic diseases. A gene refers to a recipe for the formation of proteins. Proteins, as a result, are responsible for controlling the functions, defects and the instructions offered to the cell (Feramisco et al., 2009). If the protein instructions in the formation of a cell defect, they negatively influence the formation of a cell. DNA also is known as deoxyribonucleic acid is a chemical that comprises nucleotides. These are transported within the cell using chromosomes and into the nucleus of the cell. Most genes occur in pairs as inherited in the chromosomes from one’s parents. The coding for proteins makes genes the hereditary material, and this leads to the inheritance of genetic diseases and abnormalities in case they occur (Punta et al., 2007). There are various ways in which genetic defects are responsible for causing diseases. One of the simplest ways is through the loss of function mutation. In this form of mutations, the defect arises from a change in the nucleotides of the DNA that prevents the gene from processing more protein. Also, it can occur as a result of the protein from function once it is processed. These are the most common forms of genetic diseases that occur as a result of the loss of function mutations and include some form of cystic fibrosis which is a condition that affects the lungs and the pancreas among other groups of blood clotting disorders (McLean, 2011). The second mechanism on which diseases are caused is called the toxic gain of function mutation which is a defect where the gene takes on a new function that harms the organism. The produced protein in the cells interferes with the normal functioning of the cell and may be impossible to control using the normal regulatory patterns and partners. Some of the common degenerative diseases that impact and affect the brain are commonly due to this type of mutation including the Huntington disease (Gustafsson et al., 2012). Besides these two approaches, there are more complex mechanisms that lead to a gene mutation. Therefore, it is essential to identify the cause of the mutation in the gene to understand the impacts of the condition that the individual is facing as well as analyse the appropriate approaches to be used in curbing and curtailing the condition. Most traits in a dysfunction are multifactorial which implies that they are determined by a combination of different genes. The human population is characterized by several variants or alleles of most, genes and each form is functional and does not cause a disease by itself (McLean, 2011). Despite this, some alleles may predispose an individual to a certain condition or disease especially when they are combined with other environmental factors or alleles that also have a predisposition to a disease. Common to this are the alleles found in colon and breast cancer. The carriers of these alleles have a high probability of contradicting and developing the inherited diseases based on the increased risk of predisposition. Although the risk can be proliferated or decreased by certain lifestyle changes such as diet, the environment due to the toxins that the individual is predisposed to experience and the presence of certain alleles in their genes (Feramisco et al., 2009). The increased understanding of the human genome opens new possibilities into the different possibilities and predispositions available in the gene patterns and the chances of susceptibility to given conditions. The manner of systems science endeavours to display the progression and structure of finish organic frameworks. To finish this objective, it enrols ideas and ability from a wide cluster of fields, for example, arithmetic, material science, designing, and software engineering notwithstanding the organic sciences (Punta et al., 2007). The "building pieces" of frameworks science models are information and information delivered inside trial science, and scientific displaying gives the "concrete" that connections these "building blocks (Karen, 2017)." Systems science broadly utilizes computational innovation and numerical methods to recreate complex organic systems. The objective is not exclusively to depict science on a solitary segment level, additionally to comprehend framework procedures, components, and standards. The understanding picked up from recreation results can then be utilized to plan in vivo and in vitro explores, and thusly additionally create models in a perpetually refined portrayal of physical and organic reality (Gustafsson et al., 2012). Since the season of Galileo, imaging has been the "eyes of science." Modern imaging advancements take into account perception of multi-dimensional and multi-parameter information. Imaging is progressively used to quantify physical parameters, for example, focus, tissue properties, and surface zone and to gather fleeting knowledge on organic capacity. Atomic tests can likewise be utilized to take into consideration both remedial and indicative applications. As the spatial determination and procurement recurrence of imaging systems increment, utilizing imaging to screen substrate and protein flow progressively might be all the more promptly accomplished. Information obtained by imaging can give the premise to scientific demonstrating of protein energy and biochemical flagging systems (Pathak, 2014). Imaging can likewise be a reasonable intends to test computational models officially created. In this case, the use of imaging produces the following identifiable image. Source (Feramisco et al., 2009) Advanced picture handling systems, for example, division and enlistment add to model creation and approval procedure. Division can help diagram and recognize specific districts in an imaged volume where there is an organic movement of enthusiasm occurring. Enrolment can aid the arrangement of imaged volumes and zones gained at various circumstances (Feramisco et al., 2009). Division and enlistment utilized together can create time arrangement information for approving frameworks science models. After division and enrolment, volume and surface rendering can be utilized for information perception. Actualizing frameworks science models in conjunction with imaging give an approach to refine comprehension of natural frameworks. In the long run, as imaging apparatuses turn out to be all the more broadly utilized, and as more natural procedures are comprehended, frameworks science models can be created that will have genuine prescient abilities. To achieve this end science will be moved by computational models, and imaging science will manage their plan and approval. Ichthyosis Vulgaris is a common occurrence in skin condition, and it is characterized as a skin condition or disorder resulting in the dry and scaly skin (Pathak, 2014). The condition is well depicted in a major population where approximately 1% of whites have the condition. Other depict a milder version of the condition where it is supposedly affecting more than 20% of the same population (Ewart, 2017). The condition affects the skins and is accompanied by other forms of allergies such as atopic asthma. The complex trait in this condition of the skin is atopic eczema that arises as a complex trait where the predisposition of the gene and a combination with environmental stimuli results in the condition. Furthermore, it is worth noting that the condition arises from a first loss of function genetic mutation in the gene of filaggrin as reported in the cause of Ichthyosis Vulgaris (Pathak, 2014). Therefore, based on the evaluation and experimentation of biochemical methods, it emerges that filaggrin genes are located in a known region of atopic eczema susceptibility locus. Therefore, the predisposition factor is the filaggrin mutations that are present to approximately 10% of the entire population the analysed whites (Feramisco et al., 2009). Although these results are reported using localization studies at high resolution, carrying out a genetic experimentation may work for the research as it would shed more light into the viability of the reported predisposition and this would lead to a more reliable report. A combination of the different techniques reveals that filaggrin is an abundant protein that is expressed and present in the upper epidermis of the skin, it is critical in the formulation and formation of the stratum corneum. These are layers of the uttermost dead cells of the skin that are responsible for the skin’s barrier function. The barrier acts as a protective layer to the innermost organs of the body (Edqvist et al., 2015). A deficiency in the gene leads to a skin barrier that is weak and allows more water loss to the outside than the expected normal rates which in essence accounts for the scaly and dry skin. Also, the deficiency leads to the entry of toxins and other allergens from the atmosphere to the body via the skin’s epidermis where inflammatory and allergic immune responses are triggered. These are the atopic allergies and eczema. The above approach of systems science is essential in determining the effects of the chosen skin disease. The dysfunction of tissue-enriched gene can be found in the blood of the organism and the skin as the major organ of live animals (Zhang et al., 2011). Since the skin is the largest organ in the body, it provides a physical barrier that regulates water loss and protects against mechanical, chemical and microbial insults from the external environment and thus the primary function is to protect the body and the internal organs (Ewart, 2017). Besides, other than acting as a shield to the human body, it is also responsible for regulating the body temperature as it is the organ that comes into contact with the environment. Therefore, the dysfunction of the skin barrier leads to injury, dehydration, infection and inflammation. Regarding temperature regulation, a dysfunction of temperature regulation leads to hyper- or hypothermia. Other key roles of the skin as an organ are that the skin both senses and responds to pathogens. However, a dysfunction of the immunologic barrier leads to infection, skin cancer, inflammatory skin conditions and allergy (Ewart, 2017). Despite live imaging being the source and part of science, there lacks some fundamental understanding of what causes some of the inherent skin conditions although scientists can view and see the condition as they become apparent to the human body. In conclusion, the common and yet most important question for a given trait with multiple contributing factors such as the changes and the different genetic skin conditions, the heritability and the genes involved are key parameters in genetic techniques in deciphering the occurrence of the condition. To attain the localisation of the protein and filaggrin genes, genetic testing approaches are the most congruent as they align with the study to indicate the heredity of the skin condition and how it is passed from the parent to the siblings using the genome mapping and heredity. From this perspective, the heritability is defined as the overall effect of both the genetic and the non-genetic factors (Edqvist et al., 2015). The immuncytochemical techniques account for the high risk of lack of ability to control the condition. Some of the prevalent changes that lead to the skin condition based on this technique are the non-genetic factors which are commonly attributed to exposure to sunlight and radiation. Several studies have been carried in an effort of determining the changes and the incumbent differences attributed to the human skin. List of References Edqvist, P., Fagerberg, L., Hallström, B., Danielsson, A., Edlund, K., Uhlén, M. and Pontén, F. (2015). Expression of Human Skin-Specific Genes Defined by Transcriptomics and Antibody-Based Profiling. Journal of Histochemistry & Cytochemistry, 63(2), pp.129-141. Ewart, K. (2017). Skin Antifreeze Protein Genes of the Winter Flounder, Pleuronectes americanus, Encode Distinct and Active Polypeptides without the Secretory Signal and Prosequences. Feramisco, J., Sadreyev, R., Murray, M., Grishin, N. and Tsao, H. (2009). Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database. Journal of Investigative Dermatology, 129(11), pp.2628-2636. Gustafsson, C., Minshull, J., Govindarajan, S., Ness, J., Villalobos, A. and Welch, M. (2012). Engineering genes for predictable protein expression. Protein Expression and Purification, 83(1), pp.37-46. Karen, B. (2017). Genetic Diseases - Biology Encyclopedia - cells, body, function, human, different, chromosomes, DNA, organs, blood. [online] Biologyreference.com. Available at: http://www.biologyreference.com/Fo-Gr/Genetic-Diseases.html [Accessed 12 May 2017]. Kumar, A. (2017). An Overview of Nested Genes in Eukaryotic Genomes. McLean, W. (2011). The allergy gene: How a mutation in a skin protein revealed a link between eczema and asthma. F1000 Medicine Reports, 3. Pathak, R. (2014). Protein structure and function: Methods for prediction and analysis. Postdoc Journal. Punta, M., Forrest, L., Bigelow, H., Kernytsky, A., Liu, J. and Rost, B. (2007). Membrane protein prediction methods. Methods, 41(4), pp.460-474. Zhang, M., Zhu, C., Jacomy, A., Lu, L. and Jegga, A. (2011). The Orphan Disease Networks. The American Journal of Human Genetics, 88(6), pp.755-766. Read More