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Overall, how does disrupting the structure of the gene disrupt the function of the protein and cause the disease state?

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Overall, how does disrupting the structure of the gene disrupt the function of the protein and cause the disease state?

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Wild Type= 3’CTC5’→3’ GAG5’→ Glutamic acid →biconcave

Mutation= 3’CAC5’→3’GUG5’→ Valine→sickle cell

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How does the change in protein function result in the sign and symptoms?

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How does the change in protein function result in the sign and symptoms?

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Valine restructures the hemoglobin becoming insoluble in nature. These insoluble hemoglobin molecular are not able to carry as much O2 due to their reduce surface area (Cornell 2016).

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Fig.2 Showing the different between a normal healthy red blood cell and a sickle-shaped red blood cell resulting from Sickle Cell Anemia. https://kidshealth.org

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What happens to the protein after this gene is translated given the mutation?

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What happens to the protein after this gene is translated given the mutation?

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5’GAG3’ codes for Glutamic Acid in the wild type.
5’GUG3’ codes for Valine in the mutation type.
Replacing glutamic acid with a valine result in the hemoglobin s (an abnormal hemoglobin) subunits to stick together and form long, rigid molecules. The cell type that is sickled is the red blood cell. The red blood cells appear more as a crescent shape instead of a normal round shape as seen above in figure 2. The sickle shape causes the hemoglobin cells to die prematurely, decreases their oxygen-carrying ability, and can cause them to block small blood vessels (Williams and Thein 2018).

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Fig.1 Showing the base pair mutation from T--> A in sickle cell anemia. https://ib.bioninja.com.au/standard-level/topic-3-genetics/31-genes/mutations.html

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What happens to the mRNA with this mutation?

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What happens to the mRNA with this mutation?

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A simple base pair mutation, resulting in a change from a T to an A in the DNA template strand, is the cause of sickle cell anemia (Cornell 2016).
Wild Type
3’CTC5’→5’GAG3’
Mutant Type
3’CAC5’-->5’GUG3’

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The HBB gene is found on chromosome 11. Within the HBB gene, a thymine is replaced with an adenine. This results in a glutamic acid being replaced with valine at position 6 in beta-globin. This mutation is written as Glu6Val or E6V (Ashley-Koch et al. 2000).

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Due to the shape of sickle cell anemia, infected individuals are prone to clotting and abnormally low O2 levels. Clotting is the leading cause of heart attacks and strokes. Low O2 levels can cause extreme fatigue, nausea, and dizziness. The sickle-shaped red blood cells can also cause a pain crisis which is a sharp pain when abundant RBCs get caught and block blood flow (Onimoe and Rotz 2020).

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HBB is the gene that supplies the  instructions for the manufacturing of the protein beta-globin. Beta-globin is a subunit of the protein hemoglobin (Ashley-Koch et al. 2000).

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Ashley-Koch A, Yang Q, Olney RS. Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):839-45. Review.

Brent Cornell. 2016. Mutations | BioNinja. Bioninjacomau. https://ib.bioninja.com.au/standard-level/topic-3-genetics/31-genes/mutations.html.

Robin Miller. 2022. Sickle Cell Disease | Nemours Teen Health. https://kidshealth.org/en/teens/sickle-cell-anemia.html

Onimoe G, Rotz S. 2020. Sickle cell disease: A primary care update. Cleveland Clinic Journal of Medicine. 87(1):19–27. doi:10.3949/ccjm.87a.18051.

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Rasmussen S. 2022 Jul 26. OMIM Entry SICKLE CELL ANEMIA. wwwomimorg. https://www.omim.org/entry/603903.

Williams TN, Thein SL. 2018. Sickle Cell Anemia and Its Phenotypes. Annual Review of Genomics and Human Genetics. 19(1):113–147. doi:10.1146/annurev-genom-083117-021320.

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Sickle cell anemia is caused by a point mutation that occurs in the hemoglobin beta gene. In this gene the mutation occurs on chromosome 11p15 (Rasmussen 2022).

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Sickle Cell Anemia
Hemoglobin Subunit Beta (HBB) gene