Trinucleotide repeat disorder

As a trinucleotide repeat diseases hereditary diseases are grouped together, the common mutation base is an intragenic expansion of base triplets of existing DNA sequences ( "Expansion disease "). These repeats show an unstable pattern of inheritance and are responsible due to large variability of their tissue distribution for the different degrees of development of symptoms in the individual diseases.

On the basis of the encoded amino acid sequences of the base triplets can the Trinukleotiderkrankungen divided into two groups.

Polyglutamine

Polyglutamine in the repetitive codon consists of the sequence CAG, and encoded in the translation of the amino acid glutamine.

Nichtpolyglutaminerkrankungen

Among the Nichtpolyglutaminerkrankungen a heterogeneous group of Trinukleotdiderkrankungen is grouped with different triplets. Your base triplets are out of reading frame and encode not be for an altered protein. They lead instead to a decreased protein biosynthesis:

Tissue (biology) Genetic code Huntington's disease Androgen receptor ATXN2 C-Terminus Homogeneity and heterogeneity Fragile X syndrome FMR1 Fragile X-associated tremor/ataxia syndrome Friedreich's ataxia Digital Object Identifier
322699
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