Mutations Causing Conditions which may be Passed On in Families

A mutation is a change that occurs in our DNA sequence, either due to errors when the DNA is copied or as a result of environmental factors such as UV light and cigarette smoke.
Sometimes, mutations can lead to changes in the physical or physiological traits of an organism. Many of these changes are harmless, but others can cause disorders or conditions that can be passed on in families.
These inherited conditions are caused by certain genes that have mutated. These genes can be passed on from parent to child, leading to the condition being present in multiple generations of a family.
An example of a condition caused by a mutation that can be inherited is cystic fibrosis. This is a recessive condition caused by a mutation in the gene for the protein CFTR. This means that for a child to have the condition, both parents must carry the mutated gene.
Another example is Huntington’s disease. This is a dominant disorder caused by a mutation in the HTT gene. Only one parent needs to carry the mutated HTT gene for a child to potentially develop the condition.
In some cases, mutations can increase an individual’s risk of developing a certain condition, but don’t guarantee it will happen. An example is the BRCA1 and BRCA2 genes, mutations in which can significantly increase a woman’s risk of developing breast and ovarian cancer.
Genetic testing can be used to identify if an individual carries a mutation that can cause a genetic disorder. This can help to determine an individual’s risk of having a child with the condition.
Many inherited conditions caused by genetic mutations are currently untreatable. However, understanding the mutations that cause these conditions can help scientists and medical professionals develop better treatments and preventive measures.
Studying family histories and the genetic links for these conditions is a part of the branches of genetics known as genetic counselling and medical genetics.