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Frameshift Mutation Example Disease in Humans

Frameshift Mutation Example Disease in Humans

A frameshift mutation is caused by the insertion or deletion of nucleotides in a gene sequence that is not a multiple of three, leading to a shift in the reading frame during protein translation. This alteration changes all downstream codons, often producing a truncated or nonfunctional protein.A well-known human disease caused by frameshift mutations is Duchenne Muscular Dystrophy (DMD). In DMD, frameshift mutations occur in the dystrophin gene, resulting in the absence of functional dystrophin protein. This leads to progressive muscle weakness, loss of motor function, and severe complications affecting the heart and respiratory muscles. Because frameshift mutations drastically disrupt protein structure, they are commonly associated with severe genetic disorders.

Frameshift Mutation, Duchenne Muscular Dystrophy, Genetic Disease, Insertion Mutation, Deletion Mutation, Reading Frame Shift, Dystrophin Gene, Truncated Protein, Loss of Function Mutation, Human Genetic Disorders, Molecular Genetics

#FrameshiftMutation #GeneticDisease #DuchenneMuscularDystrophy #HumanGenetics #MolecularGenetics #DNA #ProteinSynthesis #Genomics #MedicalGenetics #RareDiseases

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