Gene Mutations

How can gene mutations affect health and development?

It is obvious that genetic mutation has mild to significant affect on the body and causes certain relevant changes. For the body to function properly there are various cells and every cell rely on thousands of proteins in order to perform well on relevant body portion at right time.

Effects of genetic mutation:

In some cases gene mutation hinders the performance of one, or more than one, of these proteins. By altering the instruction of gene which is passed for producing protein, a mutation can lead to malfunction of protein or even absence of entire protein. When such a mutation, that causes alteration to protein that plays critical role in body, takes place it may hinder normal development of body or lead to medical issues. Any mutation related to one or more gene that causes physical issues is referred to as genetic disorder.

Functioning of gene:
An appropriate body is based on consistent interplay between thousands of protein functioning together in right place at right time. Every protein that functions properly is due to an intact gene. Many of the diseases, if not most, are considered to be developed due to fluctuations or abnormalities of genes. According to studies there are approximately 4000 diseases that may result out of defected gene inherited either from mother or father. Several common disorders such as heart issues and various cancers result due to intricate interplay between various genes and sometimes between gene and environmental factors.

Gene mutation effects on unborn babies:
Gene mutation can be of various intensity levels. Some mutation can be so severe that it may influence the fetus or embryo and prevent it from surviving till birth. These fatal changes are associated with genes that are crucial for development of fetus, which is why the development of fetus is hindered often in its earlier stages. Since, these mutations have serious developmental affects children are disabled in life.

To your information gene does not cause diseases alone, on the other hand genetic disorders are caused by gene mutation that hinders its functioning. For an instance, when individuals have “Cystic fibrosis gene” they actually have mutated CFTR gene, that leads to diseases.

Not all gene mutation causes health or developmental defect but there is a small percentage of genetic mutation leading to genetic disorder. Generally, mutation of gene if potential of causing disorder is often repaired by relevant enzymes.  DNA repair is also essential as DNA mutation may often lead to diseases.

Also see: Klinefelter syndrome – Pictures, Symptoms, Causes & Treatment