{"id":20536,"date":"2023-05-24T09:54:57","date_gmt":"2023-05-24T14:54:57","guid":{"rendered":"https:\/\/www.zocdoc.com\/blog\/?p=20536"},"modified":"2023-07-19T11:52:49","modified_gmt":"2023-07-19T16:52:49","slug":"genetic-mutations-and-their-effects","status":"publish","type":"post","link":"https:\/\/www.zocdoc.com\/blog\/guides\/genetic-mutations-and-their-effects\/","title":{"rendered":"Genetic Mutations and Their Effects"},"content":{"rendered":"

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.\u00a0<\/span><\/p>\n

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 <\/span>a risk of genetic mutations<\/span><\/a> leading to cancer or rare diseases.\u00a0<\/span><\/p>\n

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.\u00a0<\/span><\/p>\n

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Most common genetic disorders due to mutations<\/h2>\n

There are a variety of genetic disorders that a person may have, however, some <\/span>disorders are more common<\/span><\/a> than others. Each disorder presents with different symptoms, requires different treatments, and impacts a person\u2019s quality of life in different ways.\u00a0<\/span><\/p>\n

Down syndrome<\/h2>\n

Down syndrome<\/span><\/a> 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.\u00a0<\/span><\/p>\n

Individuals with Down syndrome often receive speech therapy, physical therapy, and occupational therapy to help them develop to their highest potential.\u00a0<\/span><\/p>\n

Down syndrome can be tested for<\/span><\/a> when the mother is pregnant, using blood, imaging, or amniotic fluid.\u00a0<\/span><\/p>\n

Cystic Fibrosis<\/h2>\n

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.\u00a0<\/span><\/p>\n

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.\u00a0<\/span><\/p>\n

The outlook for <\/span>individuals with cystic fibrosis<\/span><\/a> is better than ever, with half of the current patients predicted to live past 40.\u00a0<\/span><\/p>\n

Sickle cell anemia<\/h2>\n

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.\u00a0<\/span><\/p>\n

Individuals are <\/span>tested for sickle cell anemia<\/span><\/a> as fetuses or after birth, using the placenta, blood, or amniotic fluid.\u00a0<\/span><\/p>\n

Individuals with sickle cell anemia are considered high-risk individuals for various infections and diseases. Sickle cell patients are often on the list of <\/span>high-risk individuals prioritized for vaccines<\/span><\/a> such as the COVID-19 vaccine.\u00a0<\/span><\/p>\n

Huntington\u2019s disease<\/h2>\n

Huntington\u2019s 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.\u00a0<\/span><\/p>\n

People with <\/span>Huntington\u2019s disease<\/span><\/a> 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.\u00a0<\/span><\/p>\n

There are treatments to help with the symptoms of Huntington\u2019s, but there is no cure and no way to stop the progression of symptoms.\u00a0<\/span><\/p>\n

Tay-Sachs disease<\/h2>\n

Tay-Sachs disease is caused by a genetic mutation that results in a missing enzyme in a patient\u2019s body. Normally, this enzyme is meant to break down fatty lipids. However, in the body of someone with <\/span>Tay-Sachs disease<\/span><\/a>, this enzyme isn\u2019t present to break down the lipids.\u00a0<\/span><\/p>\n

As a result, fatty lipids build up in a person\u2019s 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.\u00a0\u00a0<\/span><\/p>\n

How to find out if\u00a0 you have a genetic mutation<\/h2>\n

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:\u00a0<\/span><\/p>\n