Genetic disorders; most people have heard of them.
They are often associated with the idea of inheriting a predisposition for risks like diabetes, autism, or schizophrenia.
Many people know that these disorders are caused by mutations in genes, but many people don’t know how they work or how to stop them.
In this Anony Max we will look at genetic disorders and explore what gene therapy is and how it can offer hope for prevention.
In biology, a gene is a segment of DNA that encodes a particular biological function. This biological function is referred to as a phenotype.
Genes can be inherited from both parents and can be inherited from a single parent. A mutation in a gene may affect the way it allows its product to function or may have no effect on its function at all.
The information stored in genes is “transcribed” into RNA (ribonucleic acid) molecules that then become proteins.
Proteins are the chief building blocks of life and carry out most of the functions in living organisms. They can be thought of as the tools that do the work in cells.
A mutation, also called a change in DNA sequence, is when one or more nucleotides in a gene are altered or changed.
A gene mutation can alter or destroy a protein function, alter how an organism looks, alter the ability to reproduce, alter its behavior,and alter how it interacts with its environment.
Genes are made up of nucleotides arranged in only four different ways: adenine (A), guanine (G), cytosine (C), and thymine (T).
1. Example of genetic disorders: Cancer
This type of genetic disorder is the result of too many mistakes in the cells of an organism, which can lead to life-threatening tumors.
The most common forms are leukemia, lymphoma, breast cancer, lung cancer, and brain tumors.
Since these cancers are caused by mutations within the genes that control cell growth and division, they may be targeted by therapies that target these specific genes to help repair them.
2. Example of genetic disorders: Cystic fibrosis
This is a genetic disorder which causes the production of thick, sticky mucus in various parts of the body, especially in the lungs and digestive tract.
In children, this mucus can cause problems with breathing and digestion.
The genes involved in this disorder are CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) and ABCC7 (ATP-Binding Cassette Subfamily C Member 7).
The mutation in these genes causes them to produce an altered protein that does not function correctly.
These mutations allow too much chloride to be secreted into sweat and mucous. This causes the thick mucus that is characteristic of the disorder.
3. Example of genetic disorders: Hemophilia
Hemophilia is caused by a mutation which changes the structure of one of the proteins that are involved in blood clotting.
This allows blood to lose its function and bleed uncontrollably. The two main genes that are affected by hemophilia are Factor IX, involved in clotting, and Factor VIII, involved in clotting.
These mutations block the usual function of the proteins so they do not carry out their usual functions during blood clotting.
Since blood clotting is crucial for survival, these mutations are commonly lethal within several months if left untreated.
As soon as clotting proteins are discovered, they can be produced in a lab and administered to people. In the future, these techniques could be used to make other treatments for genetic disorders.
Gene therapy is a treatment that uses genes, or small pieces of DNA, to treat biological abnormalities.
Gene therapy can correct mutations that cause genetic disorders by replacing mutated genes with normal copies of themselves.
Gene therapy was first performed in the 1980s using viruses to deliver genetic instructions into a patient’s cells to try and fix a specific mutation.
Although many improvements have been made since then, gene therapy remains very dangerous because it cannot control where the treatment is distributed in the body or how much is distributed.
4. Gene therapy is compared to Human microinjection
Dr. James Wilson was the first scientist to use viruses to deliver genetic instructions into cells.
He was inspired by the poliovirus, which had previously been used to treat diseases using vaccines.
Wilson also used viruses, but instead of using them for vaccination, he used them to deliver treatments by equipping the viruses with genes that would be delivered into specific cells in the body.
Although this technique is very effective in treating small animals like mice and rats, it cannot be applied to humans due to the risk of severe side effects like brain damage and death.
The difficulty lies in reproducing these results because humans are much larger than Rodents and require much larger doses of treatment in order to act as an effective treatment.