mutació

Mutació refers to a permanent change in the DNA sequence of an organism, which can result in alterations in genetic information. These changes can occur spontaneously or be induced by external factors such as radiation, chemicals, or errors during DNA replication. Mutations serve as the raw material for evolution by introducing genetic diversity within populations.

Mutations can be classified based on their effects and mechanisms. Point mutations involve changes in a single nucleotide, such as substitutions (e.g., replacing an adenine with a thymine), insertions (adding a nucleotide), or deletions (removing a nucleotide). These can lead to silent mutations (no change in the protein), missense mutations (altered protein), or nonsense mutations (premature stop codon). Larger-scale mutations include frameshift mutations, where insertions or deletions disrupt the reading frame of the genetic code, and chromosomal mutations, such as deletions, duplications, inversions, or translocations, which affect larger segments of DNA.

Not all mutations are harmful; some may have neutral or even beneficial effects. Beneficial mutations can confer advantages, such as increased resistance to diseases or environmental stressors, contributing to natural selection. However, deleterious mutations can impair cellular function, leading to genetic disorders or diseases. For example, mutations in the *BRCA1* or *BRCA2* genes are linked to an increased risk of breast and ovarian cancers.

Mutations can occur in somatic cells (affecting only certain tissues) or germ cells (transmitted to offspring). Germline mutations are particularly significant because they can be passed down through generations, potentially affecting future populations. Advances in genetic technologies, such as CRISPR-Cas9, have enabled precise editing of DNA, offering new possibilities for correcting harmful mutations and improving agricultural and medical applications. However, ethical considerations surrounding mutation editing remain a subject of ongoing debate.