Pioc, Jhan Mark Dril T.

PSY204
NS002-Lecture (BioChemistry)
Assignment

Nucleic acids, the blueprints of life, hold immense power beyond their fundamental role in
storing and transmitting genetic information. They are revolutionizing medicine and
agriculture, with significant real-world applications including disease diagnosis, genetic
testing, oncologic applications, gene therapy and gene editing, forensics and paternity
testing, agriculture and food production, genetic modification (GM), bioremediation and
environmental applications, and the development of sustainable food sources.

Disease diagnosis uses techniques like Polymerase Chain Reaction (PCR) to amplify specific
DNA sequences, allowing for the detection of infectious diseases like COVID-19 or genetic
disorders like cystic fibrosis. Genetic testing identifies potential risks for genetic diseases,
enabling preventative measures and personalized treatment plans. Oncologic applications
involve identifying genetic mutations in cancer cells to predict disease progression and
guide targeted therapies.

Gene therapy and gene editing treat genetic disorders by introducing healthy copies of
genes to replace defective ones. CRISPR-Cas9, a revolutionary gene editing tool, offers the
potential to eradicate viruses by altering their genetic makeup. DNA fingerprinting is a
powerful tool for identification in criminal investigations and paternity testing.

Nucleic acid research continues to evolve rapidly, opening doors to even more
transformative applications, such as personalized medicine, gene therapy, and sustainable
food sources. However, ethical considerations and responsible practices must be
addressed to ensure the safe and beneficial use of these powerful molecules.

References:
● Butler, J. M. (2005). Forensic DNA analysis: current trends and future endeavors. Philosophical Transactions of the Royal Society B:
Biological Sciences, 360(1460), 1505-1518.
https://royalsociety.org/~/media/about-us/programmes/science-and-law/royal-society-forensic-dna-analysis-primer-for-courts.pdf
● Chisti, Y. (2008). Biodiesel from microalgae. Biotechnology Advances, 26(4), 291-306.
https://www.sciencedirect.com/topics/engineering/second-generation-biodiesel
● Dienstmann, R., Wang, L., & Harrington, E. A. (2015). Targeted therapy of cancer with kinase inhibitors: Harnessing the knowledge of
mutations and signaling pathways. Drug Discovery Today: Therapeutics, 10(1), e1-e10.
https://www.sciencedirect.com/science/article/pii/S1357303915002777
● Doudna, J. A., & Sternberg, S. H. (2018). A guide to the CRISPR-Cas system. Journal of Molecular Biology, 430(10), 4691-4707.
https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/crispr-cas9
● James, C. (2019). Global Status of Commercialized Biotech/GM Crops in 2019. ISAAA Brief No. 54. International Service for the
Acquisition of Agri-biotech Applications. https://www.isaaa.org/resources/publications/briefs/55/
 Give at least (3) Disease/Disorder that are related to genetic mutation, then
explain.

1. Cystic fibrosis (CF): A mutation in the CFTR gene causes cystic fibrosis (CF), a
hereditary condition that can be fatal. This mutation interferes with the
production of a protein that controls the movement of fluids into and out of
cells. As a result, thick mucus accumulates in the lungs and digestive tract,
resulting in persistent respiratory infections and digestive issues.
2. Sickle Cell Disease: A mutation in the hemoglobin gene, which codes for the
protein that carries oxygen in red blood cells, causes this hereditary blood
condition. The mutation results in sickle-shaped red blood cells, which can
obstruct blood flow and lead to extreme discomfort, weariness, and damage
to organs.
3. Huntington's disease (HD): A mutation in the HTT gene causes the
neurodegenerative disease known as Huntington's disease (HD), which
damages brain nerve cells by producing a toxic protein. The symptoms of
Huntington's disease (HD) usually appear in mid-adulthood and get worse
with time, leading to emotional instability, mobility issues, and cognitive
impairment.
4. Phenylketonuria (PKU): A mutation in the PAH gene, which is required for
the breakdown of the amino acid phenylalanine, causes phenylketonuria
(PKU). PKU can cause behavioral issues, convulsions, and intellectual
disabilities if left untreated. However, most PKU patients can lead healthy
lives if they receive an early diagnosis and follow a rigorous diet low in
phenylalanine.
5. Down Syndrome: A portion or all of an additional chromosome 21 is the
source of Down syndrome, a genetic disorder. Numerous physical and
developmental difficulties, including as intellectual incapacity, distinctive
facial traits, and an elevated chance of specific health issues, can result from
this chromosomal anomaly.
References:
[1] National Human Genome Research Institute Home | NHGRI. (n.d.). https://www.genome.gov/
[2] Learn more about sickle cell disease (SCD). (2023, October 3). Centers for Disease Control and Prevention.
https://www.cdc.gov/ncbddd/sicklecell/index.html
[3] Huntington’s Disease Society of America. (2015, July 2). Huntington’s Disease Society of America. Huntington’s Disease Society of America -
Family Is Everything.
https://hdsa.org/
[4] More information on phenylketonuria (PKU). (2016, December 1).
https://www.nichd.nih.gov/.https://www.nichd.nih.gov/health/topics/pku/more_information
[5] Down syndrome - Symptoms and causes - Mayo Clinic. (2018, March 8). Mayo Clinic.
https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977