Gene mutations are changes in the DNA sequence of your genes, impacting how proteins are made. Proteins are vital for building tissues, producing hormones, and many other functions. When mutations occur, they can disrupt these processes and affect your health.
Types of Gene Mutations:
Point Mutations: Alterations in a single DNA base, including:
Substitution: One base replaces another.
Insertion: An extra base is added.
Deletion: A base is removed.
Frameshift Mutations: Changes from adding or deleting bases, shifting the reading frame of the genetic code and often leading to non-functional proteins.
Nonsense Mutations: Introduce a premature stop codon, resulting in truncated proteins that usually don’t work properly.
Chromosomal Mutations: Larger changes in chromosomes, such as deletions, duplications, or rearrangements, which affect multiple genes.
Impact on Health:
Some mutations are linked to diseases. For instance, BRCA1 and BRCA2 mutations increase the risk of breast and ovarian cancer by affecting DNA repair.
Genetic Testing:
Genetic testing identifies these mutations, helping diagnose conditions, assess risks, and guide personalized treatment. Understanding your genetic profile can help you make informed health decisions.
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