Replication slippage

Disease associations

Huntington disease is normally progressive and results in movement, cognitive and psychiatric disorders. These disorders can lead to a severe impact on an individual's daily activities, making it hard for proper communication and independent actions to take place. Replication slippage can also lead to other neurodegenerative diseases in humans. These include spinal and bulbar muscular atrophy ( trinucleotide expansion in the AR gene), dentatorubral–pallidoluysian atrophy ( trinucleotide expansion in the DRPLA gene), spinocerebellar ataxia type 1 ( trinucleotide expansion in the SCA1gene), Machado-Joseph disease ( trinucleotide expansion in the SCA3 gene), myotonic dystrophy ( trinucleotide expansion in the DMPK gene), and Friedreich's ataxia ( a trinuncleotide expansion in the X25 gene). Therefore, replication slippage leads to a form of trinucleotide expansion which results in serious changes to protein structure.