Biochemistry of Genetic Mutations

Biochemical Basis of Genetic Mutations

Genetic mutations are alterations in the DNA sequence that can lead to changes in the proteins encoded by the affected genes. These mutations can occur spontaneously or be induced by external factors such as radiation or chemicals. Understanding the biochemistry of genetic mutations is crucial for studying genetic diseases and developing treatments.

Types of Genetic Mutations

There are several types of genetic mutations, including point mutations, insertions, deletions, and duplications. Point mutations involve a change in a single nucleotide base, while insertions and deletions involve the addition or removal of nucleotide bases. Duplications result in the replication of a segment of DNA, leading to an increase in the gene copy number.

Mechanisms of Genetic Mutations

Genetic mutations can occur through several mechanisms, including errors during DNA replication, exposure to mutagens, and spontaneous changes in the DNA sequence. Errors during DNA replication can lead to the incorporation of incorrect nucleotide bases, while exposure to mutagens can cause chemical modifications to the DNA.

Impact of Genetic Mutations

Genetic mutations can have varying impacts on protein function, depending on the location and type of mutation. Missense mutations result in the substitution of one amino acid for another, leading to changes in protein structure and function. Nonsense mutations introduce a premature stop codon, resulting in a truncated protein. Frameshift mutations cause a shift in the reading frame, leading to changes in the entire protein sequence.