Editorial, J Pharm Sci Emerg Drugs Vol: 8 Issue: 1
P53 Gene Mutations
College of Pharmacy, Southwestern Oklahoma State University, Oklahoma, USA
*Corresponding Author : Jaehwa Choi
College of Pharmacy, Southwestern Oklahoma State University, Oklahoma, USA
E-mail: [email protected]
Received: April 07, 2020 Accepted: April 23, 2020 Published: April 29, 2020
Citation: Choi J (2020) P53 Gene Mutations. J Pharm Sci Emerg Drugs 8:1. doi: 10.37532/jpsed.2020.8(1).e105
The TP53 gene provides instructions for making a protein called tumor protein p53 (or p53). This protein acts as a tumor suppressor, which means that it regulates cell division by keeping cells from growing and dividing (proliferating) too fast or in an uncontrolled way. The p53 protein is located in the nucleus of cells throughout the body, where it attaches (binds) directly to DNA. When the DNA in a cell becomes damaged by agents such as toxic chemicals, radiation, or ultraviolet (UV) rays from sunlight, this protein plays a critical role in determining whether the DNA will be repaired or the damaged cell will self-destruct (undergo apoptosis). If the DNA can be repaired, p53 activates other genes to fix the damage. If the DNA cannot be repaired, this protein prevents the cell from dividing and signals it to undergo apoptosis. By stopping cells with mutated or damaged DNA from dividing, p53 helps prevent the development of tumors. Because p53 is essential for regulating DNA repair and cell division, it has been nicknamed the "guardian of the genome."
In biology, a mutation is an alteration in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA. Mutations result from errors during DNA replication, mitosis, and meiosis or other types of damage to DNA (such as pyrimidine dimers that may be caused by exposure to radiation or carcinogens), which then may undergo error-prone repair (especially microhomologymediated end joining) or cause an error during other forms of repair or else may cause an error during replication (translation synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements.
Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. The genomes of RNA viruses are based on RNA rather than DNA. The RNA viral genome can be doublestranded (as in DNA) or single-stranded. In some of these viruses (such as the single-stranded human immunodeficiency virus), replication occurs quickly, and there are no mechanisms to check the genome for accuracy. This error-prone process often results in mutations.
Mutation can result in many different types of change in sequences. Mutations in genes can have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in non genic regions. A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70% of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or marginally beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state.
A tumor is a mass or lump of tissue that may resemble swelling. Not all tumors are cancerous, but it is a good idea to see a doctor if one appears. The National Cancer Institute define a tumor as “an abnormal mass of tissue that results when cells divide more than they should or do not die when they should.” In a healthy body, cells grow, divide, and replace each other in the body. As new cells form, the old ones die. When a person has cancer, new cells form when the body does not need them. If there are too many new cells, a group of cells, or tumor, can develop. Although some tumors are benign and consist of noncancerous cells, others are malignant. Malignant tumors are cancerous, and the cells can spread to other parts of the body. A tumor develops when cells reproduce too quickly. Tumors can vary in size from a tiny nodule to a large mass, depending on the type, and they can appear almost anywhere on the body.
There are three main types of tumor:
Benign: These are not cancerous. They either cannot spread or grow, or they do so very slowly. If a doctor removes them, they do not generally return.
Premalignant: In these tumors, the cells are not yet cancerous, but they have the potential to become malignant.
Malignant: Malignant tumors are cancerous. The cells can grow and spread to other parts of the body.
It is not always clear how a tumor will act in the future. Some benign tumors can become premalignant and then malignant. For this reason, it is best to monitor any growth.
Hydatid disease is a parasitic infestation by a tapeworm of the genus Echinococcus. It is not endemic in the United States, but the change in the immigration patterns and the marked increase in transcontinental transportation over the past 4 decades have caused a rise in the profile of this previously unusual disease throughout North America. This has led to the necessity for physicians to be more aware of its clinical features, diagnosis, and management.
Patient education is aimed at teaching the population at risk about the disease, its methods of transmission, its hosts, and the methods of prevention.
Hydatid cyst caused by Echinococcus granulosus, is an important zoonotic infection causing high morbidity and mortality in human. A great many intraspecific variants or strains of Echinococcus granulosus have been described from different intermediate host species or geographical areas. Echiococcus granulosus is known to exist as a biologically distinct sub specific variants or strains which may vary in their infectivity to man. There is clear evidence that within Echiococcus species, genetic heterogeneity is commonly found, and that these intraspecific variations perhaps have important roles in regard epidemiology. A strain of Echinococcus is a group of individuals which differs statistically from other groups of the same species in gene frequencies. Although morphological and biological studies have provided extremely useful information for strain identification, it has to be considered that Despite biological and morphological studies presented very important information on strain detection we have to observe the variability of these features. They might be affected by environmental and host factors and might not show distinct genetic feature. The parasite that has effect on the tumor suppressor protein which is encoded by the TP53 gene contribute to the multiple cellular pathways such as DNA repair, angiogenesis cell cycle control, cellular senescence, cell differentiation, apoptosis induction, and cell proliferation control. In spite of the dependence of frequency on the Tumor type, site and stage TP53 gene mutation is mostly sporadic and happens in about 50% of all human malignancies. Mutations of TP53 germline lead to Li-Fraumeni syndrome (LFS), which rare predisposition syndrome of cancer related dramatically high prevalence and early onset and different primary neoplastic disease e.g. breast cancer, brain cancer (including MB), soft tissue and bone carcinoma as well as adrenocortical carcinoma. By using PCR amplification HCCs were analyzed for point mutations in exons 5-8, using PCR amplification, direct DNA sequencing and single-strand conformation polymorphism, all these HCCs have been tested for exon 5-8 point mutation. Mutations were found in 11 HCC patients. The study aimed to detection of the Hydatid cysts in infected patients, and to determine of the mutations occurred in TP53 and CTNNB1 genes in liver cancer patients.
Mutation Occurrence in TP53 and Ctnnb1 Genes in Hepatocellular Carcinoma Associated with Echinococcus granulosus Infection. J Pharm Sci Emerg Drugs 7:1The articles published in Journal of Pharmaceutical Sciences & Emerging Drugs have been cited 104 times by eminent researchers all around the world. Following is the list of articles that have cited the articles published in Journal of Pharmaceutical Sciences & Emerging Drugs.