Department of Energy Argonne National Laboratory Office of Science NEWTON's Homepage NEWTON's Homepage
NEWTON, Ask A Scientist!
NEWTON Home Page NEWTON Teachers Visit Our Archives Ask A Question How To Ask A Question Question of the Week Our Expert Scientists Volunteer at NEWTON! Frequently Asked Questions Referencing NEWTON About NEWTON About Ask A Scientist Education At Argonne Helpful Mutations
Name: Keli
Status: Student
Age: 12
Location: N/A
Country: N/A
Date: March 2004

Give an example of A Helpful mutation. Explain why it is helpful.

Pretty much all the variation in existing creatures living on earth are the result of helpful mutation, otherwise, the only living things on earth would be exactly the same as the ones when life first came to be on earth.

Pick almost any species of animal, and you will find physical reasons that it is not exactly like similar species, reasons that will help it survive in the location it lives.


Any mutation that creates a protein that wasn't there before, but can now be used by the body for something is helpful. For example, hemoglobin is a protein in your blood that carries oxygen. It is made of four protein chains, 2 called alpha and 2 called beta. There are different versions of these proteins found on your chromosomes. They all appear to have come from an original hemoglobin-like protein and all came about because of mutations. So for example, the beta chain is similar to the gamma chain and is different by a few mutations. However, the gamma chain allows the hemoglobin to bind oxygen even more tightly. The gamma chain is used by the fetus during pregnancy when it has to share oxygen with the mother. This is definitely an advantage to the fetus. So fetal hemoglobin is made of 2 alpha and 2 gamma chains.Just before birth, the gene for gamma turns off and the gene for beta turns on and at birth and after the hemoglobin is made of alpha and beta and doesn't need to bind oxygen quite as tightly. There are many other examples.


Answer: The most famous example of a helpful mutation is the gene for sickle cell disease, which has the ability to protect carriers from malaria. Malaria is common in Africa, and this gene is common in people of African ancestry. It appears that the malaria protection in heterozygotes, people carrying one copy of the gene, was so useful that the gene was preserved in the population because people carrying the trait survived to have more children, on average. This benefit existed in spite of the fact that children carrying two copies of the gene were afflicted with sickle cell anemia.

Many other gene differences exist between different people. Our faces, hands and bodies, internally and externally, are all unique, and many of these differences are caused by genes. Some characteristics may be caused by single genes but most have multifactorial inheritance - many genes interacting with each other and with environmental factors, adding their effects together. Some of these changes are inherited from our parents and some may occur as new gene mutations in every generation.

Of all the many genetic differences, those that cause disease get more publicity, but other mutations may be very useful. Some may make a person prettier, or stronger, or smarter, or more resistant to disease - even if we cannot yet pinpoint these genes and say which they are. Perhaps with future research this may become possible, especially after all the research that has been done on the Human Genome Project.

Another thing to keep in mind is that some gene mutations may be harmful in some situations and beneficial in others. Imagine a person with a blood clotting gene who also has a bleeding disease such as hemophilia. Although the blood clotting gene is not helpful to most people, since it increases the risk of a dangerous blood clot, could it perhaps be helpful to the person with hemophilia? This question may soon be answered by medical research.

Also, bear in mind that the situations that make a mutation beneficial or harmful may have a cultural basis that depends on historical reasons rather than medical reasons. For instance, suppose there is a war and someone who wants to join the army is refused because of a genetic disease caused by a harmful gene mutation. It might be that this person's life is saved by not joining the army.

It sounds strange, but there are cases known, for instance in Tsarist Russia, where people injured themselves on purpose to avoiding serving in the army. They considered that living with a crippling injury for the rest of their lives would be less harmful than 25 years of military service in harsh and cruel conditions.

Besides this, there may of course be some deeper, philosophical meaning in the lives of people with genetic diseases. They may be grateful or, at least, content to live their lives with mutations that the rest of us consider harmful. This may perhaps even be true for suffering caused by social factors such as poverty or oppression.

We should all do our best to reduce the amount of suffering in the world. Everyone's life is unique and meaningful in some way, and all of us have some potential to improve the lives of those around us and somehow to benefit society.

Sarina Kopinsky, MSc, H.Dip.Ed.

Click here to return to the Molecular Biology Archives

NEWTON is an electronic community for Science, Math, and Computer Science K-12 Educators, sponsored and operated by Argonne National Laboratory's Educational Programs, Andrew Skipor, Ph.D., Head of Educational Programs.

For assistance with NEWTON contact a System Operator (, or at Argonne's Educational Programs

Educational Programs
Building 360
9700 S. Cass Ave.
Argonne, Illinois
60439-4845, USA
Update: June 2012
Weclome To Newton

Argonne National Laboratory