Journal of Public Health Policy and Planning

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Editor Note - Journal of Public Health Policy and Planning (2021) Volume 5, Issue 3

Role of gene mutations in diseases

Milan Jansen*

*Department of Public Health, Erasmus MC, Rotterdam, The Netherlands

Corresponding Author:
Milan Jansen
Department of Public Health
Erasmus MC
Rotterdam, The Netherlands
E-mail: [email protected]

Accepted date: March 22, 2021

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Editorial Note

The genome is composed of one to several long molecules of DNA, RNA and protein. Mutations take place potentially anywhere on these molecules at any stage. The most dangerous changes take place in the functional units of DNA, the genes. If mutation occur on gene is called a mutant allele.

A mutation is defined because the it's a permanent alteration within the DNA sequence that creates up a gene, such the sequence differs from what's found in most of the people. Mutations different in size; they will affect anywhere from one DNA building block (base pair) to an outsized segment of a chromosome that has multiple genes [1].

Environmental change is one among the items which will produce big, serious mutations in our DNA which will quickly cause disease, like cancer caused by radiation. But our DNA also contains many small hidden mutations. While they initially haven't any effect on us because of a box of genetic tricks our bodies use to guard us, these “cryptic” variations can build up over many generations then be delivered to life by big environmental changes.

Somatic mutations that happen during a single cell early in embryonic development can cause a situation called mosaicism. These genetic changes aren't present during a parent’s egg or sperm cells, or within the embryo, but happen a touch later when the embryo includes several cells [2,3]. As all the cells divide during growth and development, cells that arise from the cell with the altered gene will have the mutation, while other cells won't. Counting on the mutation and the way many cells are affected, mosaicism may or might not cause health problems.

Recent research has shown just how important these cryptic variations are to evolution. There’s an opportunity they might be behind the growing risk of problems like diabetes, cancer and heart condition, and will even produce new diseases. But these mutations could even be hidden gifts from our ancestors that enable us to adapt more quickly to the problems we face, from medical conditions to global climate change. Germinal mutation, mutations that are within the germ tissues of the body, mutations could also be transmitted to progeny c dominant mutations are seen in first generation after the mutation occurs d if a female gamete containing an X-linked mutation is fertilized, the males will show the mutant phenotype e) recessive mutations will only be seen upon the prospect mating with a private carrying the recessive allele too; thus, the recessive mutation may remain hidden for several generations C. Phenotypic effects [4]. Morphological mutations are mutations that affect the outwardly visible properties of an organism.2. Lethal mutations are mutations that affect the viability of the organism.

Cancer may be a group of diseases characterized by rapid, uncontrolled proliferation of cells within a tissue leading to the formation of a tumor. Cancer has many causes and phenotypes but the elemental mechanism underlying all cancers is genetic. There are two sorts of genes that are involved in cancer formation [5]. Tumor suppressor genes are genes that encode a product that normally stops cellular division. Mutations in these genes end in uncontrolled activation of cellular division and thus tumor formation. Mutations are generally recessive and thus you would like mutations in both alleles to possess cancer. A mutation in one allele predisposes the carrier to cancer. Rb gene-retinoblastoma BRCA1 - hereditary carcinoma gene. p53 gene mutations are found during a sort of cancers including breast, lung, bladder, and colon cancers. Over 1/2 of all cancers are related to p53.


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  2. Arzouni N, Matloff W, Zhao L et al. Identification of Dysregulated Genes for Late-Onset Alzheimer’s Disease Using Gene Expression Data in Brain. J Alzheimers Dis Parkinsonism.2020;10:498.
  3. Dazortsava MY, Pyko IV, Boneva NB et al. Implication of GPR40 Signaling in the Subventricular Zone Neurogenesis after Ischemia via Cross-Talk between Neural Progenitors and Microglia. J Alzheimers Dis Parkinsonism.2018;8:454.
  4. Lam WWM, Ip JJK, Mui CYC, Cheuk D et al. Comparison between Dynamic Contrast-enhanced Magnetic Resonance (DCE-MR) and Dynamic Contrast-Enhanced Ultrasound (DCE-US) in the Imaging of Pediatric Extra-Cranial Tumor. OMICS J Radiol.2020; 9:1000321.
  5. Nigussie M, Kebede A. Histopathologic Patterns of Soft Tissue Tumors in Jimma University Medical Center, Southwest Ethiopia: A 5-Year Retrospective Study. J Clin Exp Pathol.2020;10:380.
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