Introduction
Gene mutation refers to an alteration or variation in the DNA sequence of a gene. Genes are the basic units of heredity. These are the segments of DNA that provide the instructions for protein synthesis.
Proteins are essential for building and repairing muscles, and bones, in producing hormones and enzymes. A gene mutation can lead to protein malfunction, affecting overall health.
A gene mutation can happen due to exposure to external factors such as radiation, chemicals, or viruses. Besides, it can also occur spontaneously during DNA replication.
Gene Mutation And Its Types
Gene mutations result from variations in a gene’s DNA sequence. It can occur through various mechanisms and contribute to different types of changes. In a cell, there is an entire set of genetic instructions, known as a genome, where gene mutation occurs.
A gene mutation is caused by various factors, and its effects differ among organisms. And yes, gene mutation can be passed on to future generations. Some common types of gene mutation with examples are as follows:
- Point Mutations: Point mutations are a type of genetic mutation resulting from variations in a single nucleotide base. The changes occur within the DNA sequence of a gene.
Such mutations can take place during DNA replication. In addition, it can also be a result of exposure to mutagenic agents such as chemicals, radiation, or certain viruses.
There are three different types of point mutations, including substitution, insertion, and deletion.
- Frameshift Mutations
These mutations occur when the addition or deletion of nucleotides in the DNA sequence changes the reading frame during translation. This can cause a shift in the reading frame of the genetic code.
Such mutations in the sequence of amino acids contribute to the malfunction of amino acids. Frameshift mutations affect the structure and function of the resulting protein, contributing to non-functional or dysfunctional proteins.
Insertion and deletion are the two main types that come under the frame mutations category.
- Nonsense Mutations
These are a type of point mutation wherein a single change in nucleotide leads to a stop codon. DNA mutation converts a codon originally coded for an amino acid into a premature stop codon.
This gives rise to the production of non-functional proteins, resulting in the early termination of protein synthesis.
- Chromosomal Mutations
Such a type of mutation leads to changes in the structure or number of whole chromosomes. It affects the larger segments of chromosomes through deletions, duplications, inversions, or translocations.
Gene Mutation Vs Chromosomal Mutation
Gene mutations cause changes and alterations in a single gene. In the case of chromosomal mutations, variations take place in the whole chromosome.
How Gene Mutation Occurs?
Gene mutations can happen naturally, or some external factors trigger them. Potential factors responsible for gene mutation are as follows:
- Replication Errors: Normally, as cells divide, they replicate their DNA to transfer the information to the new cells. During the process of replication, errors might happen occasionally.
- DNA Damage: Several factors like chemicals, radiation, or byproducts of cellular metabolism such as reactive oxygen species (ROS) lead to DNA damage.
- Mutagens: These are the agents that speed up the rate of mutation. Examples include radiation, chemicals, viruses, and certain types of bacteria.
- Errors in DNA repair: Errors in DNA repair can influence cellular function and organismal health. This is why DNA repair mechanisms are necessary for reversing the damage that occurs due to various internal and external factors.
- Environmental factors: Radiations such as ultraviolet can cause DNA distortion during replication. Additionally, ionizing radiation like X-rays and gamma rays contribute to DNA damage.
Can Gene Mutation Be Reversed?
The reversal of gene mutations is possible. However, the process depends on various factors. They include the type of mutation, its location within the gene, and the mechanisms available for repair or correction.
This is achievable with techniques like spontaneous reversion, DNA repair mechanism, gene editing, and gene therapy. The process of reversion and correction of gene mutations involves a body’s natural mechanism of DNA repair.
Pairing the natural mechanism with techniques such as gene editing, and gene therapy can support reversal.
What Gene Mutation Causes Ovarian Cancer?
Ovarian cancer can result from various genetic mutations. Genetic mutations that potentiate the risk of ovarian cancer are as follows:
- BRCA1 (Breast Cancer Gene 1)
Mutations in the BRCA1 can influence BRCA1 function in DNA repair. This enhances the risk of ovarian cancer due to genomic instability.
- BRCA2 (Breast Cancer Gene 2)
Disruptions in DNA repair contribute to genomic instability. This increases the risk of ovarian cancer.
Which Gene Mutation Is More Destructive?
Which gene mutation has a more adverse impact cannot be determined easily. It can depend on various factors. Which include, type of mutation, its impact on gene function, individual’s family history, genetic background, and health status.
Gene Mutation For Breast Cancer
Changes in BRCA1 and BRCA2 genes increase the likelihood of breast cancer. Besides, other genetic mutations like PALB2 (Partner and Localizer of BRCA2) and CHEK2 (Checkpoint Kinase 2) also lead to breast cancer.
The Link Between Gene Mutations And Genetic Testing
Gene mutations are the alterations or changes in the DNA sequence. These variations impact the function or regulation of genes. Individuals inherit such gene makeup from one or both parents.
The mutations can even happen spontaneously at some point in a lifetime. To check for such mutations, healthcare experts suggest genetic testing.
Genetic testing is a technique that identifies specific gene mutations or variations linked to certain diseases or conditions. It helps with diagnosis, predictive testing, screening, counseling, critical decision-making, and treatment.
Conclusion
Gene mutation and genetic testing are strongly linked. Genetic testing serves as a powerful tool for identifying and assessing disease-causing mutations and evaluating disease risk.
Apart from that, genetic testing also guides personalized medical management and family planning decisions. It helps understand the genetic basis of the condition.
With this valuable information, individuals and healthcare providers can work together to optimize
