Your DNA is the foundation of your existence and acts as an instruction manual for every cell in your body. Everything from your eye color to your asthma can be found in your DNA. However, sometimes genetic mutations happen, leading to a variety of outcomes.
Genetic mutations are changes in your DNA. These changes in your DNA sequence can manifest as beneficial evolutionary changes, or as conditions that require treatment and care. Studies have found that when conducting DNA sequencing on healthy adults, one in every five participants was found to have a risk of genetic mutations leading to cancer or rare diseases.
Genetic mutations can carry a lot of risks, but by understanding these mutations, you can increase your chances of being diagnosed and treated if you are experiencing symptoms of a genetic condition.
Most common genetic disorders due to mutations
There are a variety of genetic disorders that a person may have, however, some disorders are more common than others. Each disorder presents with different symptoms, requires different treatments, and impacts a person’s quality of life in different ways.
Down syndrome
Down syndrome is caused by the presence of an extra copy of chromosome 21. This extra copy causes low muscle tone, small stature, and an increased risk of hearing loss, sleep apnea, and more.
Individuals with Down syndrome often receive speech therapy, physical therapy, and occupational therapy to help them develop to their highest potential.
Down syndrome can be tested for when the mother is pregnant, using blood, imaging, or amniotic fluid.
Cystic Fibrosis
Cystic fibrosis is caused by a mutation that impacts the ways cells move water and salt. Patients develop repeated infections as a result, and their bodies fill with thick mucus. This mucus impacts their ability to breathe effectively.
Patients are tested for this condition using a sweat test that looks at the amount of salt in their sweat, or genetic testing that looks specifically at the gene that causes cystic fibrosis.
The outlook for individuals with cystic fibrosis is better than ever, with half of the current patients predicted to live past 40.
Sickle cell anemia
Sickle cell anemia is caused by a mutation that changes the shape of red blood cells. These abnormal red blood cells die quicker, causing a shortage, and their shape can cause blockages and pain.
Individuals are tested for sickle cell anemia as fetuses or after birth, using the placenta, blood, or amniotic fluid.
Individuals with sickle cell anemia are considered high-risk individuals for various infections and diseases. Sickle cell patients are often on the list of high-risk individuals prioritized for vaccines such as the COVID-19 vaccine.
Huntington’s disease
Huntington’s disease is caused by an inherited genetic mutation that impacts the nerve cells, called neurons, in the brain. Because of this disease, neurons slowly break down and die, causing a loss of control over voluntary movement.
People with Huntington’s disease normally first present symptoms in their thirties and forties. They progressively lose control of their muscles and lose the ability to walk, eat, or speak.
There are treatments to help with the symptoms of Huntington’s, but there is no cure and no way to stop the progression of symptoms.
Tay-Sachs disease
Tay-Sachs disease is caused by a genetic mutation that results in a missing enzyme in a patient’s body. Normally, this enzyme is meant to break down fatty lipids. However, in the body of someone with Tay-Sachs disease, this enzyme isn’t present to break down the lipids.
As a result, fatty lipids build up in a person’s body and cause the nerve cells to die. The most common form of this disease occurs in infants and leads to an early death by the age of five.
How to find out if you have a genetic mutation
If you suspect that you or your child may have a genetic mutation, your primary focus should be to seek a definitive diagnosis from a doctor. By discussing your worries and possible symptoms with a doctor, they can determine if a genetic test is needed. If genetic testing is necessary, there are several kinds your doctor may use, including:
- Single gene testing: This test looks for a mutation in a specific gene based on the results of other tests and exams.
- Panel testing: This test looks for mutations in several genes.
- Genome sequencing: Genome sequencing creates a full map of your genes and is the most in-depth genetic testing available.
Once your results are in, your doctor will discuss them with you and provide guidance on future treatment options.
If you are simply interested in learning more about your genetic makeup, you can purchase a direct-to-consumer genetic test that can give you information about your ancestry and your risk for certain diseases. These tests are meant for recreational use because the labs used for testing are not on par with clinical genetic testing labs. If you want to discuss your results with a doctor, you can get more information about these tests and possibly receive further testing to confirm and negate the spit test you conducted.
Physical effects of genetic mutations
Genetic mutations can lead to a variety of physical effects. These effects can have a significant impact on a person’s life and include abnormalities such as:
- Cleft palate: According to the Cleft Lip and Palate Association, cleft palates can be caused by mutations in several genes. Someone born with a cleft palate may have missing teeth, a crooked jaw, defects in the bones that support their teeth, and speech problems. Dentists can remove teeth, apply braces, and insert implants to help a person with a cleft palate to have better chewing and speaking function.
- Webbed fingers and toes: This phenomenon happens when there is connective skin between a person’s fingers or toes. This phenomenon can happen on its own, or be a symptom of a genetic disorder such as Down’s syndrome.
- Vision loss: For geneticists, vision loss is often referred to as inherited retinal degeneration. Studies have shown that there are 260 different genes that, when mutated, can lead to vision loss.
- Hearing loss: According to the CDC, 50% of hearing loss in babies has genetic causes. Additionally, 70% of these instances of hearing loss are nonsyndromic. Put simply, many of these genetic mutations only present as hearing loss without any additional symptoms.
- Oral health problems: Oral health issues such as periodontal disease are caused by a complex list of factors, both environmental and genetic. A dentist can identify oral health issues and help determine whether they are caused by a mutation or not.
Not all of these physical symptoms are exclusively caused by genetic mutations. It is important to consult with a doctor to receive more information about the presence of genetic mutations and the impact that mutation has on treatment options.
What does having a genetic mutation mean?
Having a genetic mutation means that a change occurred in your DNA. Sometimes, this can lead to genetic disorders and diseases, but that does not always occur.
Testing for genetic mutations can help you to understand your risk of developing dangerous conditions. Beyond genetic testing, there are other physical tests you can conduct routinely to find diseases caused by dangerous mutations, such as getting a yearly mammogram to test for breast cancer.
It is important to know the difference between a genetic disorder, a genetic mutation, and other jargon throughout your testing and treatment. For example, a genetic mutation does not always result in a disorder that requires a lifetime of treatment. Conducting research and asking questions can help you to better understand your test results.
How to find out if you’re at risk of passing on a genetic mutation
If you are a prospective parent, you have a lot of information being thrown at you about how to stay healthy during pregnancy and beyond. One important factor to consider is the prevalence of genetic mutations and your odds of passing those mutations on to your children.
Genetic testing can provide answers in regard to what you are at risk of passing on to your children. It is important to note that you may not experience any symptoms, but may be a carrier of a mutation that can be passed on.
Genetic mutations are a complex and varied topic. A mutation can be harmless or harmful. By educating yourself about the risks and seeking medical testing if needed, you can help yourself and your children live healthier lives.