Darft 1 of Rayana Bio Part Ed

Introduction:
People experience their surroundings through their five senses, but how does this exposure
contribute to genetic mutation? In the case of human health, it is obvious that a person's
environment does influence illness risk and evolution, implying that external signals must be
capable to reach the cellular nuclei and coordinating changes in genes or gene use. According
to research, these effects can be delivered through a variety of processes. Additionally, in some
circumstances, sufficiently modest or potent environmental stimuli which are called mutagens
go under 2 main types which are chemical and physical mutagens, which can cause mutation in
a cell by altering the DNA sequence
Disorders caused by Radiation:
First, radiation exposure is a well-researched physical mutagenesis agent that may lead to a
variety of DNA damage, such as altering nucleotides and double-strand breaking. The
mutagenic effects of radiation exposure on germline cells are especially concerning since they
result in the inheritance of abnormal mutations in the children of the variant parents.
Furthermore, the current estimates of the germline genetic risks of radiation exposure and
other mutagens for humans are based on valuable information from conducted research that
shows the genomic sequence of mutation evolving in the germline cells of irradiated parents.
However, the study of only a few strands (usually seven) of the gene coding for protein cannot
effectively predict the pattern of mutation induction across the whole gene. Besides, the ability
to figure out the mutation was into having scientific research sought to investigate the genome-
wide influence of radiation exposure on mutation induction in mouse germline cells.
For instance, a high dose of radiation can cause Phenylketonuria which’s an inborn rare
metabolic error triggered most commonly by missense mutations in the gene encoding for
phenylalanine hydroxylase, an enzyme that’s used for the hydroxylation of phenylalanine to
create tyrosine, resulting in the buildup of an amino acid or its metabolite is toxic. PKU is
characterized by elevated blood Phenylketonuria levels and reduced Tyr levels. PKU newborns
might seem normal at birth, with the first indications showing several months later. The musty
odor from the skin and urine, fair skin, dermatitis, convulsions, tremors, and hyperactivity are
some of the symptoms. This exercise addresses the presentation, assessment, and
management of phenylketonuria and emphasizes the importance of an interdisciplinary team
approach to patient care. PKU infants might show no symptoms at birth, while the first
indications would show several months later. The musty odor from the skin and urine, fair skin,
eczema, seizure, tremors, and hyperactivity are some of the symptoms.
Disorders caused by chemicals:
In the regular manufacture of plastics, fuels, food additives, and even medications, many of a
variety of chemicals are employed. Numerous number of these substances are mutagens, and
some of them have been shown to cause cancer in rats or mice, by the use of the Ames test, a
quick and low-cost method for determining mutagenicity, uses mutant strains of the Salmonella
typhimurium bacterium and is typically finished within a few days. Moreover, there is an
increase in the numbers of mutations in cancer-associated genes as well as certain types of
mutations in malignancies which were found by genetic investigations of various cancers
brought on by tobacco smoking. This came up about evaluating the mutated genetic sequence
of groups of smokers and non-smokers found using the Discovery Screens.
For example, Alveolar macrophages act as guardians of the healthy lungs of nonsmokers. The
bronchi and pulmonary epithelia, however, experience a massive invasion of macrophages and
neutrophils when tobacco smoke reaches the lungs. As a result, smoking exposes epithelial
tissue directly to at least 60 carcinogenic agents that have the ability to harm lung, bronchial,
and laryngeal epithelium DNA.
Citiation:
1. Ionizing radiation (IR) is an extensively studied mutagenic agent, exposure to which
results in different types of DNA damage, ranging from modified nucleotides to double-
stand breaks1. By: Frankenberg-Schwager, M. Induction, repair and biological relevance
of radiation-induced DNA lesions in eukaryotic cells. Radiat. Environ. Biophys. 29, 273–
292 (1990) .
2. The mutagenic effects of IR on the germline are of particular concern as they lead to the
accumulation of extra mutations in the offspring of irradiated parents2. By: UNSCEAR.
Hereditary Effects of Radiation United Nations (2001) .
In chemical:
1. Hruban RH, van Mansfeld ADM, Offerhaus GJ, et al. K-ras oncogene
activation in adenocarcinoma of the human pancreas. A study of 82
carcinomas using a combination of mutant-enriched polymerase chain
reaction analysis and allele-specific oligonucleotide hybridization. Am J
Pathol. 1993;143:545–54. [PMC free article] [PubMed] [Google Scholar]
Resources:
1. Introduction:
● https://www.nature.com/scitable/topicpage/environmental-mutagens-
cell-signalling-and-dna-repair-1090/
2. In disorder caused by chemicals:
● human genetic disease - Genetic damage from environmental agents |
Britannica
● Genetic Mutations Associated With Cigarette Smoking in Pancreatic
Cancer - PMC (nih.gov) <Cancer Res. Author manuscript; available in
PMC 2010 Apr 15.
Published in final edited form as:
Cancer Res. 2009 Apr 15; 69(8): 3681–3688.
Published online 2009 Apr 7. doi: 10.1158/0008-5472.CAN-09-
0015
3. the disorders caused by infection agents:

●
4. In the disorder caused by radiation :
● https://www.nature.com/articles/ncomms7684
● https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863296/
● https://nap.nationalacademies.org/read/11340/chapter/6#92 (book)
● https://www.ncbi.nlm.nih.gov/books/NBK535378/
● human genetic disease - Ultraviolet radiation | Britannica

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Introduction:

3. the disorders caused by infection agents:

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