The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

Article Abstract:

A GAA triplet-repeat expansion in the first intron of the X25 gene is associated with Friedreich ataxia. The GAA triplet-repeat expansion may produce an unusual, but stable, structure of DNA that hampers transcription and thus causes a lack of frataxin at the cellular level. RNase protection assays show a lack of mature X25 mRNA in patients homozygous for the GAA triplet expansion.

Research, Genetic transcription, Transcription (Genetics), Friedreich's ataxia

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Functional and structural brain abnormalities associated with a genetic disorder of speech and language

Article Abstract:

Researchers describe an English family in which half the members of three generations have a severe speech and language disorder. The gene mutation appears to affect the development of the caudate nucleus, causing bilateral structural and functional abnormalities.

Abnormalities, Brain, Brain abnormalities, Language disorders, Speech disorders

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