We are living in a world that is constantly changing. Our environment, the food we eat, and even the people we associate with are affected by the choices we make. In fact, it is estimated that there are over 3 million genetic mutations in the human genome. These changes are not always beneficial, and in fact, may cause problems in the long run. It is up to us to make the right choices to live a healthy life.

When it comes to our genome, there are a few things you need to know. First, it may be possible to alter the genes that make up our bodies. In fact, many people do so when taking certain drugs to prevent cancer or to cure disease, like the popular anti-cancer drugs, Herceptin and Avastin. And while many people think of the changes as “bad,” they may actually be more beneficial than harmful.

While some genetic variations can be passed down through families, many are not. There are many different genetic changes that can happen, some which are bad and others that are good. For example, some people are born with a disorder that causes them to have certain body parts that are smaller than normal. This is called a malformation. A few years ago, an article was published about a woman who had an extra copy of a gene that causes hemophilia. This changed the way the woman’s blood cells function. They became more sensitive to the effects of clotting factors, which can cause significant harm. There are many other examples of genetic changes that can be passed down through families and cause problems for the person they are passed down to.

Did you know that all humans share 99.9% of their genetic information? This means that what makes us unique depends only on the remaining 0.1%.  Any change in the DNA sequence can lead to a change in the genetic code and therefore to a change in the synthesis of the protein for which it is encoded. Click here for more information about Eurofins sequencing.

Therefore, the clinical consequences of a genetic change depend on where it occurs. That is, whether it is in the coding area or not. Likewise, if the change leads to an abrupt change in protein synthesis and thus in the function of the body.

What kind of changes can there be?

The different types of genetic modifications are as follows:

  • Replacement: Moving from one base to another.
  • Remove: Elimination of a number of bases.
  • Doubling : Doubling of the base fragment.
  • Reversal: Reversal of the base sequence.

Why do genetic changes take place?

We can say that genetic variation in general has two origins:

  • Due to external factors of an environmental nature.
  • Due to internal factors that are genetic in nature.

The human body regularly renews almost all of its cells; to do this, the cells divide and two daughter cells are produced. During this cleavage process, errors can occur that lead to the formation of genetic changes.

External factors such as smoking or sun exposure, among many others, increase the likelihood of this type of error. These genetic changes, which affect only the cell in which the abnormality occurred, are called somatic and are not passed on to the offspring.

However, genetic changes can also be present from birth. If there is an error in the genetic material of an egg or sperm cell, it is passed on to the zygote and remains in all its cells. It is also possible that this change occurs during embryogenesis (the process by which a zygote turns into an embryo), although it is not present in the germ cells. In both cases, these changes are called germline changes, and people who have them can pass them on to their offspring.

Genetic changes : Mutations and polymorphisms

Changes

You’ve probably heard of mutations and probably associate the term with something negative. Mutations are genetic changes that occur in less than 1% of the population and are associated with an increased risk of developing a particular disease.

Polymorphisms

Polymorphisms are genetic changes that occur in more than 1% of the population. Most polymorphisms are known as single-nucleotide polymorphisms.

SNPs are responsible for 90% of what makes us different from each other, meaning they determine much of the genetic variability between people.

Genetic variation is the key to evolution

The genetic variations that each of us has make us unique. If there were no genetic variations, there would be no evolution. The source of all genetic variation is mutation, i.e. stable, heritable changes in the genetic material in successive generations.

Each species has a different mutation rate modulated by natural selection to balance the dual situation of stability and variation inherent in each environment.

What defines you genetically?

At the beginning of the 21st century At the beginning of the 20th century, the first draft of the sequence of the human genome was published. The Human Genome Project, carried out between 1990 and 2003, was made possible by the participation of international institutions.

These scientific advances ushered in the era of genomics in biology and medicine and made possible the sequencing of the human reference genome.

Summary

Now you know why people have different physical characteristics. It all comes down to that 0.1% that makes us unique. It is essential to be able to detect these genetic changes preventively in order to adapt our lifestyle to our genetics and improve our quality of life. Genes are the building blocks of life and are passed down from our parents to us. We inherit traits from our parents that can shape the way we look, the way we feel, and how we act. If you are interested in some of the inside information about genetic alterations, this blog will come in handy.. Read more about disadvantages of genetic engineering in humans and let us know what you think.

Frequently Asked Questions

Why is there a need to study genetic mutations?

The human body can be split into two distinct systems: the somatic system and the reproductive system. The somatic system includes all the organs that are not involved with reproduction, and they are all controlled by the human brain. The reproductive system is the group of organs that are involved with reproduction, and they are all controlled by the human genetic code, or DNA. We all know that cells are basically factories, which constantly manufacture new molecules (such as proteins, carbohydrates, fats, etc.) Our body needs these molecules to perform various functions (such as building up muscle mass, or repairing tissues, for instance). However, every time our body manufactures new molecules, it makes mistakes in doing so, hence the reasons for which we may develop diseases.  One of the most common diseases, is the one related to genetic mutations: diabetes.

In what ways can genetic information be altered?

As we age, our genetic information becomes increasingly vulnerable to the effects of aging and the environment. There are many ways to alter genetic information, and this is something that no doubt scientists will continue to explore. There are many ways in which the human genome can be altered. These include inserting, removing or modifying the DNA, using gene-editing technology, and altering the gene expression.

What are gene alterations and what do they result in?

Each one of us is born with a genetic code that determines how we look, but certain genetic changes can cause problems, such as cancer or heart disease. Some of these mutations occur spontaneously, while others can be induced by external factors. Gene alterations are changes in genes that result in changes in the phenotype — the physical appearance — of the individual. They can be major, such as deletions, or minor, such as small changes in the genes. Even though these changes may seem small, they can be significant. Gene alterations can result in a low birth weight baby, or a child with asthma, or a child with diabetes.