What are your thoughts on the ability of a single nucleotide mutation to cause such effects on an entire organism? Why? Name two other diseases that are caused by a point mutation.

I think it is amazing and sad at the same time that a single nucleotide mutation can cause so much damage on an organism. It is amazing because there for types of nucleotides in dna and if a single one is mutated it can be catastrophic for the organism. I find it sad because of the amount of diseases caused by the mutation. These diseases include cystic fibrosis and Tay-Sachs disease. Both diseases and sickle cell anemia can become fatal.

 

It is really sad when someone has a disease or serious blood disorder like sickle cell anemia with no cure. Just knowing alone that it has no cure is detrimental to they body because you will have it at the back of your mind that if anything goes wrong, it may eventually leads to death. Your write up gave me better understanding and how dangerous Beta hemoglobin is a chain of 147 amino acid, and that only a single change in the 147 amino acids can lead to sickle cell anemia.

 

Good write up! I also don’t know why sickle cell anemia mostly affects African America, but I think people just get into marriage without knowing each other blood group. In Africa, one the factors affecting people is not checking or knowing the genotype of their partners before copulating, and now putting their children and offspring at a very high risk of sickle cell anemia.

 

 Sickle Cell Anemia

What comes into my mind when I hear that someone has sickle cell anemia is that the person will die untimely because I have seen and heard about many scenarios that eventually lead to an untimely death. Sickle cell anemia is an inherited or genetic disease that switch into a single nucleotide in the gene. Individuals who are affected by the disease are the ones who have two copies of sickle cells. The people who have sickle cell have these signs and symptom that is detrimental to the body system. The signs and symptoms are pain in the joints, fatigue, dizziness, low oxygen in the blood, urinary problem or blood alteration. Although sickle cell anemia is not curable, there are treatment and cure that can help with the severity of the pain level; such as: blood transfusions, bone marrow transplant and medications like vitamins, chemotherapy, narcotic and many more. The two other diseases caused by point mutation are cystic fibroses and color blindness.

 

 

The fact that just a single point mutation can cause such damage to the body goes to show how delicate and exact DNA has to be in order for an organism, in this case a human,to have a normally functioning body. When you couple this with the fact that that single point mutation can lead to a domino effect of other health issues like organ damage, severe pain and anemia it illustrates the seriousness of this disease. From previous knowledge I have heard that in the United States sickle cell anemia mostly affects African Americans although it can be seen in other groups of people as well, I have always wondered why this is. I have not seen any study on the reason for this but it is definitely a curious topic. Some other diseases that are also caused by a point mutation are cystic fibrosis and color-blindness.