How Genetic Mutations Result In Faulty Proteins Biology Essay


Genetic mutations have had grave effects on the proteins synthesized under such conditions. The genetic defects are instrumental to the resulting faulty proteins. Such proteins are usually difficult to remove through the pathway for the degradation of protein known as ubiquitin-proteosome. The end result is that the victim of such a mutation of genes develops diseases or conditions related to the presence of the faulty protein which cannot be degraded via this pathway. Although there are several diseases of this kind, we shall focus on cystic fibrosis, heart diseases , Andersen's syndrome, Parkinson's disease , Alzheimer's disease, Human Pappilloma(HPV) Virus and leukemia(Schonthal, 13).

For the transport proteins, a gene mutation would result in a specific type of leukemia that is characteristically diagnosed in children. It is referred to as T-Cell acute lymphoblastic leukemia or childhood leukemia. The gene that is involved in this case is refered to as NOTCH1. This gene mutates and the result is the proliferation of T-cells hence the development of T-ALL tumors. This is because of the abnormal apolipoprotein E (ApoE) formed. The enzyme gamma-secretase serves to lyse NOTCH1 allowing it to trigger the process of carcinogenesis by synthesiszing abnormal ApoE. This will result in T-Cell acute lymphoblastic. This is because the NOTCH1 Gene serves to regulate these cells that have turned cancerous (Watson et al,… 33).

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Leukemia can be treated via chemotherapy by administering drugs that inhibit the release of the enzyme gamma-secretase. Other forms of therapy such as stem cell therapy can be applied on patients who are suffering from a different form of the disease; Acute myeloid leukemia. This is attributed to the nature of the cause of this type of leukemia being the C/EBP protein. The hemoglobin is affected in a way that oxygen transportation is crippled. In lieu of giving impetus to harmful blood cells (stem-cells), cells are altered such that dysfunctional daughter cells are synthesized. The daughter cells that are of low oxygen transporting efficiency outnumber the normal white blood cells causing the leukemia disease to set in (European Molecular Biology Lab, 42). The treatment of AML leukemia may therefore be administered through stem cell therapy in future. This is because the crux of the development of the condition has been identified as to be the stem cells of the blood cells. In the case of the T-ALL leukemia, the most appropriate treatment is by administration of drugs capable of inhibiting the secretion of the enzyme gamma-secretease which disintegrates NOTCH1(Medilexicon, 39).

The Anderson's disorder is a human disorder that affects the ion channel of proteins. Also referred to as chanelopathy, the disorder is characterized by effects on structural proteins. The result of the genetic mutations is anomalies pertaining to development of muscles. The ion channel proteins act as the regulators of the flow of ions across cell membranes. Of the three ion channel genes that are in the potassium ion channel, the KCNJ2 channel gene is the one that is responsible for the occurrence of the disorder. mutation of this gene results in functionality of the potassium channel. Therefore, the current of potassium drops in its flow rate across the cell membranes. This change is also exhibited in the presence of normal channels as long as the KCNJ2 gene is mutated. Critical sections of the protein Kir.2 .1 were noted to have been changed by the mutation of the KCNJ2 . This is specifically the region around the pore of the membrane of the cell that serves as a conduit for the potassium ions. The deprivation of the proper flow of potassium across results in the above mentioned disorders as well as paralysis of the muscles (Ptacek &Ying-hui, 23-34).

There are several cardiac diseases whose causes stem from genetic mutation. It is interesting that this form of gene mutation appear to be undetected in the case of natural selection. The condition associated to the gene variant in question is predominantly common in people who hail from the southern part of Asia. The gene in question is MYBPC3 that mutates leading to the anomalies in the protein it forms. During the formative and teenage years of the victims, their bodies are capable of degrading this faulty protein. However, the process comes to a grinding halt during their childbearing and middle ages. They become incapacitated to degrade this faulty protein and plunge into a number of cardiac conditions due to the build up of the faulty protein. These patients suffer from cardiomyopathy and hypertensions fatalities from cardiac arrest(Amj, 46).

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Alzheimers disease is another form of disease that results from a replete presence of a protein. ABeta is the protein that is responsible for this form of old age dementia. The disease cannot be cured but it can be managed. The recommended approach is for the patient to have a balanced diet and proper exercising of the mind as well as engaging in mind stimulating activities. These are only control measures that put the incurable neurodegenerative in check since there is no known medication for it. The current method of treatment does not suffice . There is need to research further on better alternatives. The best candidate methods on which such research should be carried on are stem cell therapy and gene therapy. There is high likelihood of a high efficacy that would be accrued from one of the methods as a mode of treatment for this disease Schonthal, 37).

Cystic fibrosis is another disease that arises from the mutation of a gene. The gene CFTE causes the mutation of proteins. The result of this mutation is an excessive loss of body salts via sweating. This chemical imbalance triggers symptoms such as fatigue, accelerated heart rate and general body weakness. The mucosal membranes of the body are also affected making the produce mucus in large proportions. The result of this is a compromised immune system when the thickened and overproduced mucus clogs vital body organs. The major organs that are affected include: the lungs, intestines sex organs, pancreas, liver and sinuses. There is currently no cure for the disease. The attempts to manage the disease are made by the use of antibiotic therapy. This is coupled with any form of medication that is effective in curtailing the amount of mucus deposited on vital organs of the body(Wei et al,..125).

Parkinson's disease is another neurodegenerative disease that results from genetic mutations. There are several genes that mutate to cause the formation of a faulty protein. The effect of this is the cessation of a biochemical process depending on what gene that has mutate. Some of the genes involved in this mutation involve SNCAIP,SNCA, GBA, PARK 2/3/4/8/10/11, UCHIL1, CYP2D6 and many others. These SNCA gene mutation for example results in the mutation of the alpha-synuclein protein. Ubiquitin carboxy-terminal hydrolase L1 is a protein that is affected and synthesized as a faulty protein as a result of the genetic mutation of UCHL1. When the gene LRRK2 mutates, the result is PARK8 . This gene is the one responsible for the synthesis of a protein called dardarin(Twombly, 9).

There is no known treatment for Parkinson's disease. However, there is a possibility of gene therapy in the future. This would readily replace the faulty gene in an individual that is capable of mutating hence wrongly coding the protein. Such an approach would assist to lengthen the life expectancy of people since its is usually a disease for the old. The ethical implication is prolonging of life whilst not attempting to play God. This is a disease whose only cure can be found through gene therapy. There is nothing wrong both ethically and morally with altering the genetic make up of a faulty gene through genetic engineering and restoring the normal (corrected) gene back into the body of the owner Such moves should be approached with sobriety and seconded by all well meaning people (Stem Cells Puhua, 13).

In the case of Astrocytoma, the oncogenes encode proteins called oncoproteins. These resemble the normal products of proto-oncogeenes (sis) in the blood platelet derived growth factor. This lack important regulatory elements resulting in the astrocytoma. (Braig & Schmitt, 2885).

Cell transformation by human papillomaviruses results from expression of the two earl region genes E6 and E7. The E 6 and E7 proteins interfere with the function of the cellular Rb and p53 proteins. In particular , E7 binds to Rb, and E6 stimulates the degradation of p53 by ubiquitin- mediated proteolysis. Early diagnosis of the human papillomavirus (HPV) by a Pap smear can avert death by cervical cancer. (Campisi & Fagagna, 726).Once the diagnosis is done at an advanced stage, if the tumor caused by the HPV virus is malignant, there is nothing that can be done to save the life of the patient. It is possible that in the future such cases will be treatable. There are castigated methods of treatment by many religious and other bodies. However, in such a case, the necessity of saving human life should override the politicization of the issue. Precedence should be given to more urgent matters at hand since almost all women in third world countries receive late diagnosis of the HPV(Liebert, 22).

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