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THE RIPPLE EFFECT OF GENE MUTATIONS: UNDERSTANDING THE IMPACT ON BODY FUNCTIONS
Welcome to our informational guide on the influence genetic mutations have on the body's functions, with a focus on the YWHAG genetic mutation.
INTRODUCTION TO GENE MUTATIONS
Genes are segments of DNA that serve as detailed instruction manuals for making proteins — the critical components of all cells. DNA sequences can be broken down into codons (3 nucleotides) which code for amino acids. A mutation occurs in the DNA which impacts the processing of amino acids and the overall function of the resulting protein.
DNA is made up of 4 chemical building blocks – adenine, thymine, cytosine and guanine — [A], [T], [C] and [G].
TYPES OF GENETIC CHANGES
Frameshift Mutations: These mutations result from the addition or removal of DNA, causing a shift in the genetic code. This shift alters the sequence of amino acids produced during protein synthesis. Types of frameshift mutations include insertions, deletions, and duplications, depending on the size and nature of the gene affected.
Duplication: This mutation occurs when a segment of DNA is replicated one or more times. An example is Down Syndrome, which involves a full or partial extra copy of chromosome 21. Remember, a chromosome is threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
Deletion: This type of mutation involves the removal of a DNA segment. The impact on gene function can vary greatly, depending on the size and location of the deletion.
Insertion: In this mutation, additional DNA is inserted into the genetic code, disrupting the original sequence.
Missense Mutations: These occur when a single DNA base pair is altered, leading to the substitution of one amino acid for another in the protein product. This can affect the protein's function to varying degrees.
Nonsense Mutations: These mutations involve a change in the DNA that creates a premature stop signal in the genetic code, resulting in an incomplete, and typically nonfunctional, protein.
Each of these mutations can significantly alter genetic function and has various implications for health and disease.
Visual of the YWHAG variant c.394C>T (p.Arg132Cys).
HOW TO READ A GENETIC MUTATION
Example: c.394C>T, p.Arg132Cys
The variant is located at the 394th nucleotide of the gene.
A gene without the variant would have a cytosine (C) base in the DNA sequence, however, the genetic code is altered and there is a thymine (T) instead of the cytosine (C) at the 394th position. This is designated by the notation “394C>T” in the genetic report.
Once the cells begin protein production, the coding change induces a corresponding amino acid change from arginine (Arg) to cysteine (Cys) in the 132nd amino acid, shown as “Arg132Cys”
HOW DO GENE MUTATIONS AFFECT THE BODY
- Protein Blueprint Alteration: Mutations can change the amino acid sequence of the protein a gene codes for, potentially altering the protein's structure and function.
-Enzyme Activity Disruption: Many proteins are enzymes that catalyze biochemical reactions in the body. Mutations can diminish or enhance these activities, leading to metabolic imbalances.
- Signal Pathway Interference: Proteins often relay signals that dictate cell growth, division, and death. Mutations in these proteins can disrupt these pathways, leading to conditions like cancer.
- Physical Development Changes: Structural proteins contribute to the body's architecture. Mutations can impact physical development and lead to skeletal, muscular, or other organ-related anomalies.
- Immune Response Alteration: Proteins play roles in the immune system. Mutations can weaken the body's defense against infections or lead to autoimmune diseases.
Role of YWHAG Mutation
- Cell Communication: YWHAG is involved in the signaling pathways that facilitate communication between cells, especially in the brain.
- Brain Function: It contributes to cognitive processes like learning and memory.
Impact of YWHAG Mutation
- Signal Disruption: A YWHAG mutation can alter the signaling proteins, impacting communication within brain cells.
- Neurological Symptoms: This disruption can manifest as developmental delays, behavioral changes, and other neurological symptoms.
- Broader Systemic Effects: The mutation can have ripple effects, potentially affecting various physiological systems beyond the nervous system.
SPOTLIGHT: YWHAG GENETIC MUTATION
Also consider…
Not all genetic mutations are harmful The genetic code is inherently robust, featuring redundancies that often prevent changes in the DNA sequence from altering protein functions. For example, the genetic code uses different sequences of nucleotides, called codons, to specify the same amino acid. Therefore, a mutation in one nucleotide might not change the amino acid that is incorporated into a protein, leaving the protein's function unchanged. Moreover, many mutations occur in non-coding regions of DNA that do not produce proteins, thus having little to no effect on the organism's phenotype.
Understanding gene mutations, such as YWHAG, is vital to grasping their broad implications on health. While mutations can lead to challenges, they also offer insights that drive medical advancements. Our ongoing research and supportive community continue to shed light on these complexities, fostering better diagnostics, treatments, and support systems.
Join us as we delve deeper into the world of genetics and work towards a future of improved health outcomes for those affected by genetic mutations.