Around 23,000 people lost their lives to Leukemia in 2021. An estimated 397,000 people in the US
are currently fighting this dreaded disease. Imagine how different life
would be if scientists could actually identify the root cause of Leukemia.
This would reignite the hope to fight this life-challenging
disease. So many people won’t have to grieve the loss of their near and dear ones.
The good news is scientists have made amazing progress in this direction. Their latest discovery
could revolutionize how we view and treat Leukemia.
Could there be a gene behind all of this?
Can identifying it lead to dramatic advancements in the prevention and treatment of Leukemia?
{bestie intro}
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The dreaded word Cancer…
Cancer occurs when cells in your body divide abnormally and at a fast pace,
spreading to various tissues and organs. This abnormal division, called a tumor, ends up causing
disruptions to your body’s general functionality. Unless it is detected at an early stage, people
with cancer usually have only a few years to live. Experts determined that about one in six
deaths that occurred in the year 2020 were because of cancer. This amounts to about
10 million deaths on the whole. The most common types of cancer are lung, breast, and prostate.
Wondering what causes cells to divide abnormally? The answer could be mutations.
(Pause) Mutations are closely linked to cancer…
This means there is a change in the DNA of your cells. These mutations can be inherited from
birth or can be caused by environmental factors. Many types of cancer are usually named for the
body part they start in. But cancer cells, if left unchecked, can reach other parts of the body too.
For instance, lung cancer begins in the lungs, but it will still be called the same name even after
the tumor has spread all the way to your liver. (Pause)
Moving on, leukemia is one of the most challenging types of cancer…
Leukemia is one such type of cancer, which typically occurs in the bone marrow.
This is the area where your body creates the blood cells. Although there are different
types of blood cells, leukemia is usually a reference to cancer of the white blood cells.
In the United States, a person is diagnosed with leukemia every three minutes. In the
United Kingdom, at least one person every hour, or 28 people in a day, are diagnosed with leukemia.
Around 40% of the leukemia cases newly diagnosed are among people who are over 75 years.
Wouldn’t it be great if we could find out why gene mutations occur? Maybe that will help scientists
find a way to put a stop to it! (Pause)
Studying gene mutations
In a landmark study, the gene mutations that were likely to be responsible for blood cancer
have been found. Researchers belonging to the universities of Edinburgh and Glasgow
studied the role of cells that specifically produce the rest of the blood cells in the body.
They identified that hematopoietic stem and progenitor cells were key to producing human
blood. But they are also prone to nasty mutations, which can increase the chances of leukemia.
To determine which genes were causing the mutations,
the scientists needed to study the cells for a long duration. This was necessary because
your blood system can get damaged as you age, increasing your risk of getting blood cancer.
For the study, the researchers worked with Cancer Research UK. With the help of the organization,
one of the biggest independent research organizations in the world,
they studied participants who were already taking part in an existing
study. There were a total of 85 participants and all of them were over the age of 70.
The researchers collected data from these participants for a period of 12 years.
They then looked at the changes that occur in the blood cells to determine the genes that are
causing the mutations. With further research, this can be a more effective way of figuring out who is
at higher risk of getting leukemia rather than the traditional method of inter-individual variation.
So, is this the only study that points out the gene mutations responsible for leukemia?
(Pause) Other significant
studies on gene mutations causing leukemia Turns out this is not the first time that such a
study has been conducted. More than a decade ago, another study was done to determine which gene
mutations were causing leukemia. Defects in the GATA2 gene showed a predisposition towards acute
myeloid leukemia and myelodysplasia. (Pause)
So, what is this GATA2 gene?
The GATA2 gene has many regulatory roles. One of them is to act as the master control
while the blood-forming cells are moving from their primitive state to white blood cells.
A mutation in this gene ended up causing leukemia. Researchers in the study focused on four families
who were not related to each other. Each of these families had several relatives over multiple
generations who had acute myeloid leukemia. Typically, the disease would come anytime during
the teen years to the person’s early 40s. (Pause)
A doctor’s interest in his patient’s prognosis led to an interesting discovery…
The mutation in the GATA2 gene causing leukemia was first discovered in
Washington. The patient was treated for cancer using a bone marrow transplant,
but the researcher Dr. Marshall Horwitz found that they had several relatives who had diseases
such as myelodysplastic syndrome, myeloid leukemia, and intractable mycobacteria infections.
Horwitz decided to see if there was any genetic connection.
Myelodysplastic syndrome is a disease in which your body finds it hard to produce
a few types of blood cells. Typically, this problem arises in the bone marrow.
People with the syndrome end up becoming anemic and would need regular blood transfusions.
Over a period of time, the syndrome evolves into bone marrow failure.
A third of the cases develop into myeloid leukemia. In this condition, a large number
of white blood cells gather in the bone marrow and interfere with the production of blood cells.
(Pause) And the plot thickens…
After deciding to check the family genetic connection to myeloid leukemia,
Horwitz’s Australian colleagues provided details
of another family with similar blood disorders among various relatives.
Both parties studied the various genes that could have been the likely candidates causing
the condition. After 18 years, the teams finally hit upon the gene responsible for
causing leukemia in both families. Once they figured it was GATA2, the teams were able
to find a similar connection in more than 20 other similar families and individual patients.
According to the researchers, the GATA2 mutation is not just responsible for leukemia. It can
also cause other dangerous infections from bacteria and fungi. This is because people
with this mutation tend to have far less white blood cells to fight these infections.
The teams have collaborated with other researchers around the world, with similar results. Some teams
have associated the GATA2 gene mutation with mycobacteria infections while others have
found it in leukemia patients with lymphedema. People with lymphedema have swelling in their
arms and legs as the condition blocks the vessels in your body that drain fluids from your tissues.
(Pause) Strangely,
GATA2 is not all about passing it down to future generations…
The GATA2 gene does not restrict itself to inheritance.
It has been seen in individuals who have the more common leukemias that are not inherited. The gene
has also been associated with a congenital syndrome that can cause developmental delays.
There is still research on why mutations such as GATA2 cause such varied health problems.
Considering it took 18 years to identify the gene, it’s safe to say it was not easy to isolate
the gene responsible for blood cancers. The researchers had to get creative in their search
for the gene causing the issues. (Pause)
There are other genes besides GATA2 that can cause trouble…
Previous researchers had identified the genes RUNX1 and CEBPA as responsible
for some inherited forms of leukemia. These particular genes bind to the DNA and control
what information is copied in the molecule. Horwitz and his colleagues kept this in mind
and searched for mutations in families that did not have RUNX1 or CEBPA. Once they eliminated
other reasons for cancer, they were able to finally identify the GATA2 gene mutations.
Horwitz suggests the gene mutations occur in DNA
that is near an amino acid that is mutated in patients that have myeloid leukemia.
This connection in the pathway could be vital to figuring out why the mutations occur
and why they cause health problems. Once these gene mutations are easy to identify,
it will be easier for people to get tests done to screen for risks of cancer. If
you and your doctor are aware that you have the gene mutation responsible for leukemia,
you can get an early diagnosis and get treatment before it becomes deadly.
Definitely good news. Isn’t it? Now that the gene mutation is identified,
we are far more hopeful of beating leukemia. Till that happens, we can benefit from knowing the
early symptoms of this disease. (Pause)
Symptoms of leukemia you should know about Depending upon the type of leukemia,
its symptoms also vary. But there are certain common signs you should keep in mind.
Persistent fever and chills are a big giveaway that something is not right with your body.
It could be leukemia. Constant fatigue and weakness should never be ignored.
If you’re catching infections quite frequently, try to get to the root cause.
Weak immunity could result from leukemia. Swollen lymph nodes, enlarged spleen or liver,
easy bruising or bleeding- all are symptoms of leukemia. Other signs you need to watch out for
are recurrent nosebleeds, excessive sweating at night, bone pain, and tiny red spots on
your skin. (Pause)
Cancer is certainly scary. Your best bet against it is early diagnosis. Interested in knowing more
about it? Let’s keep the conversation going with a couple more videos on cancer. Shall we?
Watch 7 Most Deadliest Cancers
You can also watch our video on 8 Common Cancer Signs That Are Almost Always Ignored
Go ahead, click one. Or better yet, watch both, and learn more about cancer. Did you know about
gene mutations that cause leukemia before watching this video? Let us know in the comments below!