Academic journal article Environmental Health Perspectives

A New Target of DNA Instability: Repeat Expansions. (Genetics)

Academic journal article Environmental Health Perspectives

A New Target of DNA Instability: Repeat Expansions. (Genetics)

Article excerpt

Potaman VN, Bissler JJ, Hashem VI, Oussatcheva EA, Lu L, Shlyakhtenko LS, et al. 2003. Unpaired structures in SCA10 [(ATTCT).sub.n]*[(AGAAT).sub.n] repeats. J Mol Biol 326:1095-1111.

Genes in normal individuals contain short lengths of trinucleotide repeats in which a combination of nucleotides, the building blocks of DNA, are repeated several times. Such "repeats" usually repeat themselves fewer than 30 times, but research has identified 18 human genetic diseases associated with expansion of the number of these repeats, sometimes into the thousands. Fragile X syndrome, myotonic dystrophy, and Huntington disease are a few of these devastating diseases, which become increasingly severe and have earlier onsets in successive generations, a process known as anticipation. Scientists have theorized that if the cause of the repeat expansion can be discovered, there is hope for preventing it from occurring.

NIEHS grantee Richard R. Sinden and colleagues at Texas A&M University recently discovered a unique repeat associated with spinocerebellar ataxia type 10 (SCA10), a disease characterized by seizures and lack of muscle control. The repeat is made up of 10 nucleotides in the sequence [(ATTCT).sub.n]n*[(AGAAT). …

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