Roles of trinucleotide-repeat RNA in neurological disease and degeneration
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چکیده
منابع مشابه
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متن کاملTrinucleotide repeat expansion and human disease.
Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or 10-1000 times normal lengths. The smaller expansions are found within genes coding for polyglutamine and are associated with neurodegenerative ...
متن کاملTrinucleotide repeat length and progression of illness in Huntington's disease.
The genetic defect causing Huntington's disease (HD) has been identified as an unstable expansion of a trinucleotide (CAG) repeat sequence within the coding region of the IT15 gene on chromosome 4. In 50 patients with manifest HD who were evaluated prospectively and uniformly, we examined the relationship between the extent of the DNA expansion and the rate of illness progression. Although the ...
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The tandem repeats of trinucleotide sequences are present in many human genes and their expansion in specific genes causes a number of hereditary neurological disorders. The normal function of triplet repeats in transcripts is barely known and the role of expanded RNA repeats in the pathogenesis of Triplet Repeat Expansion Diseases needs to be more fully elucidated. Here we have described the s...
متن کاملTrinucleotide repeat analysis of Huntington's disease gene in Singapore.
INTRODUCTION Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by chorea and progressive dementia. The mutation causing the disease has been identified as an unstable expansion of a trinucleotide (CAG)n. We have assessed the (CAG)n repeats in the patients and controls in our population. MATERIALS AND METHODS Polymerase chain reactions (PCRs) for the repeat reg...
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ژورنال
عنوان ژورنال: Trends in Neurosciences
سال: 2010
ISSN: 0166-2236
DOI: 10.1016/j.tins.2010.03.004