Addition and Deletion Mutations Animation

Mistakes can occur spontaneously during DNA replication, leading to genetic mutations changes in the nucleotide sequence. These alterations may also result from environmental factors, including radiation exposure and chemical mutagens like those found in cigarette smoke. Errors introduced during DNA replication can lead to various types of mutations, such as :

• Point mutations : A single nucleotide substitution, as seen in sickle cell disease.

• Insertions and deletions (Indels) : 

• Inversions : Reversal of DNA sequences.

• Chromosomal translocations : Movement of a DNA segment from one chromosome to another.

Genetic Mutations and Inherited Diseases : 

Certain mutated genes disrupt normal protein synthesis or alter gene regulation, causing hereditary disorders. Notable examples include :

• Sickle Cell Anemia : A single base-pair mutation in the HBB gene affects hemoglobin, impairing oxygen transport (PMID: 33471938).

• Cystic Fibrosis : A deletion mutation in the CFTR gene leads to defective chloride ion channels (PMID: 28449677).

• Huntington’s Disease : A trinucleotide repeat expansion in the HTT gene causes progressive neurodegeneration (PMID: 34413240).

Advancements in Mutation Detection and Genetic Therapy

Modern research has improved mutation detection through next-generation sequencing (NGS), CRISPR gene editing, and personalized medicine strategies. These innovations enhance early diagnosis and treatment options for genetic disorders. Studies in gene therapy and RNA-based treatments offer promising solutions for mitigating the effects of harmful mutations.