Human DNA Mutations and their Impact on Genetic Disorders

Theodor Bilharz Research Institute

Bibliographic Information

Authors: Samir S.

Journal: Recent Patents on Biotechnology

Publisher: Bentham Science Publishers

Publication Date: 2024

Volume / Issue: Volume 18 / Issue 4

Pages: 288–315

ISSN: 18722083

DOI: 10.2174/0118722083255081231020055309

Scopus: View on Scopus

PubMed: 37936448

Document Type: Review

Access: All Open Access; Bronze Open Access

Authors and Affiliations

Samir S., Department of Biochemistry and Molecular Biology, Theodor Bilharz Research Institute, Giza, Egypt

Abstract

DNA is a remarkably precise medium for copying and storing biological information. It serves as a design for cellular machinery that permits cells, organs, and even whole organisms to work. The fidelity of DNA replication results from the action of hundreds of genes involved in proofreading and damage repair. All human cells can acquire genetic changes in their DNA all over life. Genetic mutations are changes to the DNA sequence that happen during cell division when the cells make copies of themselves. Mutations in the DNA can cause genetic illnesses such as cancer, or they could help humans better adapt to their environment over time. The endogenous reactive metabolites, therapeutic medicines, and an excess of environmental mutagens, such as UV rays all continuously damage DNA, compromising its integrity. One or more chromosomal alterations and point mutations at a single site (monogenic mutation) including deletions, duplications, and inversions illustrate such DNA mutations. Genetic conditions can occur when an altered gene is inherited from parents, which increases the risk of developing that particular condition, or some gene alterations can happen randomly. Moreover, symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions caused by mutations. Some of the most common genetic conditions are Alzheimer’s disease, some cancers, cystic fibrosis, Down syndrome, and sickle cell disease. Interestingly, scientists find that DNA mutations are more common than formerly thought. This review outlines the main DNA mutations that occur along the human genome and their influence on human health. The subject of patents pertaining to DNA mutations and genetic disorders has been brought up. © 2024 Bentham Science Publishers.

Keywords

carcinogen; chromosomal aberration; DNA mutation; genetic disorders; mutagenesis; point mutation; DNA; Genetic Diseases, Inborn; Humans; Mutation; Patents as Topic; Cell proliferation; Diseases; Machine design; Metabolites; 5 bromouracil; arsenic; cadmium; carmustine; CRISPR associated endonuclease Cas9; cytochrome P450; dactinomycin; daunorubicin; environmental mutagen; glutathione; lomustine; mutagenic agent; propranolol; reactive oxygen metabolite; thiamazole; thyrotropin; Biological information; Cellular machinery; Condition; Damage repair; DNA replications; Human cells; Point mutations; alpha thalassemia; Alzheimer disease; anemia; beta thalassemia; bioinformatics; carcinogenesis; cat cry syndrome; chromosome aberration; clubfoot; copy number variation; cystic fibrosis; DNA damage; DNA replication; Down syndrome; energy transfer; epilepsy; fragile X syndrome; gamma radiation; gene deletion; gene mutation; gene translocation; genetic disorder; germline mutation; hemochromatosis; high throughput sequencing; human; human genome; Huntington chorea; hypothyroidism; inflammation; iron overload; Marfan syndrome; MELAS syndrome; MERRF syndrome; missense mutation; mitochondrial encephalopathy; mutagenicity; nonsense mutation; osteoporosis; physical activity; polymerase chain reaction; Review; rheumatoid arthritis; seizure; sickle cell anemia; single nucleotide polymorphism; skin cancer; skin tumor; somatic mutation; thalassemia minor; thorax radiography; Turner syndrome; ultraviolet radiation; genetics; metabolism; patent; Genes

Citation Information

Scopus Citations: 18

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