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Vesiculobullous Diseases
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Snejina Vassileva, Kossara Drenovska
Overview: The loss of integrity of the epidermis is due to mutations in the genes encoding for various BMZ structural proteins (hereditary EB) or to autoimmunity towards those proteins (EBA), which results in their absence or aberrant expression and subsequent disruption of the DEJ. The affected individuals may have inherited the mutated gene from an affected parent (autosomal-dominant or recessive mode of inheritance) or have the mutated gene as the result of a de novo gene mutation.
Food Interactions, Sirtuins, Genes, Homeostasis, and General Discussion
Published in Chuong Pham-Huy, Bruno Pham Huy, Food and Lifestyle in Health and Disease, 2022
Chuong Pham-Huy, Bruno Pham Huy
The second form of gene mutation is inherited mutation. Inherited mutations are those that may be passed on to offspring (descendants). Mutations can be inherited only when they affect the reproductive cells (sperm or egg) (106). A number of hereditary diseases are due to single gene inheritance such as Huntington’s disease, Marfan syndrome, sickle cell anemia, hemochromatosis, and so on (106). However, only about 5–10% of all cancer forms are due to inherited mutation (115–118).
Genetic testing for personalised medicine and limitations of the current medical practise in public health
Published in Ben Y.F. Fong, Martin C.S. Wong, The Routledge Handbook of Public Health and the Community, 2021
The economic impact of the personalised medicine will be substantial. Once the cause of any specific diseases can be revealed at an early stage, treatment might be more efficient and effective, allowing fewer rounds of consultations or treatments necessary for patients. Further, it is very likely that medical cost will be decreased because health care professionals have a clearer picture of the causes of a disease and specific therapy can be prescribed accordingly. For instance, it allows selection of a specific targeted therapy to treat a disease with its corresponding gene mutation(s). Thus, the practises of personalised medicine reduce patient’s physical and psychological burdens. Besides, the financial burden to patients, their families, health insurers and the government, will be significantly alleviated. Personalised medicine could potentially lead to earlier recovery from diseases, and patients will be able to rejoin the workforce and the society sooner. Hence, genetic testing will make positive contribution to the economy of a community, but it requires strong support from the government. Nevertheless, legal regulations may need to be established to tackle conflicts of interest among different parties and stakeholders.
Understanding the role of genetic susceptibility (ACE2 and TMPRSS2) in COVID-19
Published in Egyptian Journal of Basic and Applied Sciences, 2022
Abdullahi Tunde Aborode, Sherifdeen Bamidele Onigbinde, Khadijah Omoshalewa Sanusi, Noah Alaba, Aderinola H. Rasaq-Lawal, Babatunde Samuel Obadawo, Allison Olatoyosi, Saidat Omowunmi Adeniran-Obey, Victor Onwukwe, Uchenna Asogwa, Ridwan Iyanu Arinola, Seun Idowu Imani, Ayoola S. Fasawe, Ibukunoluwa Sodiya, Sherif Babatunde Adeyemi, Gaber El-Saber Batiha
Changes in single-gene DNA sequences, referred to as mutations, are responsible for hundreds of diseases. A gene can mutate in various ways, altering the protein output and rendering it incapable of performing its regular function. The most common type of gene mutation occurs when a single DNA nucleotide is altered or ‘misspelled’ [7]. Numerous mutations result from the loss (deletion) or gain (duplication or insertion) of single or multiple bases [6]. Multifactorial diseases are caused by a complex interaction of genetic, behavioral, and environmental variables. Spina Bifida, heart disease, and diabetes are all examples of these illnesses. While multifactorial conditions tend to run in families, specific mutations such as cancer can be acquired throughout a person’s lifespan [7]. Genes are involved in environmental and behavioral regulation. Changes in behavior or environment, such as food, exercise, exposure to toxic substances, or drug use, can all affect genetic features [7]
Emerging drug targets for colon cancer: A preclinical assessment
Published in Expert Opinion on Therapeutic Targets, 2022
Madison M. Crutcher, Trevor R. Baybutt, Jessica S. Kopenhaver, Adam E. Snook, Scott A. Waldman
Alterations in the NF-κB pathway can lead to constitutive activation of NF-κB, dysregulating expression of genes that encourage cell proliferation and protect cells from apoptosis. Blocking NF-κB can cause tumor cells to stop proliferating, to die, or to become more sensitive to the action of antitumor agents. The exact mechanism of action mediating the constitutive activation of NF-κB in tumors has not been identified. However, it may not be driven by a specific gene mutation. Rather, changes in the microenvironment such as chronic inflammation or stress may increase NKκB activity [29]. When certain immune cells continuously occupy a tissue, they secrete proinflammatory cytokines and reactive oxygen species that stimulate the NF-κB pathway. This stress-induced activation of NF-κB can lead to a tumorigenic environment in pre-cancers and a reduction in the ability of therapy to induce apoptosis in cancers [30].
Machine learning revealed molecular classification of colorectal cancer with negative lymph node metastasis
Published in Biomarkers, 2022
Li Liu, June Liu, Jiayao Wang, Wenliang Yuan
Gene mutation is an important feature of malignant tumours. We first calculated the exact frequency of copy number loss or gains in the chromosomal region where 252 LNMGs are located, and then used a chi-squared test to conduct a significance test. Sixty-five candidate genes with significant differences in copy number variation (CNV) expression were obtained (Supplementary Table S13). We found that they were more concentrated on the chromosomes, only distributed on chromosomes 7, 8, 13, 14, 17, 18, and 20. Some chromosomal regions were only lost, such as chromosomes 8, 14, 17, and 18, while only amplification occurred on chromosomes 7, 13, and 20 (Figure 4(A)). To study the relationship between the subclasses and the degree of gene mutation, we calculated the TMB of each subclass and found that the TMB of C3 was significantly higher than other subclasses (Figure 4(B)). We then discussed the differences in gene mutations between LN-negative CRC molecular subclasses (Supplementary Figures S3(A–D)). Genes with high mutation frequencies were detected in all subclasses, such as APC, TTN, and TP53. Differential mutations in TP53, KRAS, and BRAF genes were also found among the subclasses of GSE39582 (Supplementary Table S14). Our results indicated that there were different genomic abnormalities between different subclasses.