Genetic mutation

A genetic mutation is an abnormality in the genetic material of a living cell. This mutation can manifest in various forms, in some cases its effect is not felt at all, but in certain occasions it can have life threatening consequences.

Genetic mutations can, in some cases, be induced in mice in laboratories under controlled conditions, however, this article will discuss genetic mutations that occur spontaneously. 

Genetic mutations can occur because of various reasons, such as: exposure to certain chemicals that penetrate the cells and alter genetic material, spontaneous abnormalities in DNA replication, radiation exposure, and more.


What is genetic material?

Genetic material is a detailed plan that directs protein production in the cells. The DNA molecule comprises millions of pairs of nucleotides that create a double helix containing all hereditary information of a living organism.

Some define DNA as a prescription for protein production, and in principle, this is indeed the essence of genetic material. The molecule consists of four main building blocks, divided into the following pairs: Adenine – guanine, thymine – cytosine.

DNA is found in the nucleus of all the body’s cells, but not all cells produce all types of protein. A molecule called RNA is created in a process known as transcription. This molecule exits the nucleus and is transported into the cytoplasm. The RNA sequence determines the production of certain proteins necessary for the cell’s normal activity. Any mutation or abnormality in the genetic material can cause fatal effects.


What is the effect of genetic mutations?

To explain the harm caused by genetic mutations, we will now discuss a disease called sickle cell anemia. Unlike other types of anemia caused by a deficiency in certain nutrients (such as iron, folic acid, etc.), sickle cell anemia is caused by a gene mutation.

Hemoglobin is a protein that carries oxygen through the blood stream. While this protein is produced normally, oxygen transport is normal, but when genetic mutations cause the production of faulty protein, oxygen transport is impaired.

One of the protein subunits that comprise hemoglobin is called globin. People with sickle cell anemia have a gene mutation that disrupts the production of this subunit and substitutes glutamic acid with an amino acid called valine. This condition can create various symptoms such as heart disease, rheumatism, abdominal pain, kidney failure, pneumonia, and more.

Which diseases are caused by genetic mutations?

There are cases where genetic mutations do not disrupt people’s lives in any way, but in quite a few cases, gene mutations can lead to the development of various diseases.

In some cases, exposure to environmental factors is necessary for the mutation to affect one’s health, but in other cases, the mere presence of the mutation is enough for a severe disease to develop.

In addition, it is important to distinguish between hereditary diseases caused by genetic mutations, and diseases that occur postnatally, such as different types of cancer.

Here are several diseases caused by genetic mutations:

Cystic fibrosis.

Tay-Sachs disease.

Familial Mediterranean fever (FMF).


Usher syndrome.

Fanconi anemia.

Maple syrup urine disease.

Bloom’s syndrome.

Glycogen storage disease type I.

Fragile X syndrome.

Costeff syndrome (Methylglutaconic aciduria-3).

Down syndrome.

Prader Willi syndrome.

Angelman syndrome.


How are genetic mutations detected?

Genetic mutations can be detected via a blood test. Genetic testing for mutations can be performed prenatally (for parents planning a child), postnatally (for newborns), and by adults who wish to assess their risk for developing certain types of cancer.

These tests create a genetic sequencing of the patient and compare it to a healthy sequence. In many cases, the test is carried out before any symptoms develop, but in other cases, tests are required for explaining health impairments that may be linked to genetic diseases.

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