Researchers Uncover Possible Source of Genetic Errors Causing Multiple Diseases

Researchers Uncover Possible Source of Genetic Errors Causing Multiple Diseases

by Tufts University, Neuroscience News

Tufts University researchers have discovered a possible explanation for the occurrence of a genetic error that causes over a dozen neuromuscular and neurodegenerative disorders, including Huntington’s disease, myotonic dystrophy and forms of spinocerebellar ataxia.

The error occurs as copies of three-letter sequences of DNA–known as CAG and CTG triplets–expand and repeat themselves hundreds or even thousands of times, disrupting normal gene sequences.

Genetic analyses in baker’s yeast now reveal that these large-scale expansions are controlled by genes that have been implicated in a process for repairing DNA breaks, leading the researchers to surmise that the expansions occur while breaks are being healed. Baker’s yeast, known as Saccharomyces cerevisiae, is frequently used in scientific research.

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