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Triplet Repeat Disease

Noncoding Triplet Repeat Disorders

The noncoding triplet repeat diseases typically have large and variable repeat expansions that result in multiple tissue dysfunction or degeneration. The triplet repeat sequences vary in this subclass (CGG, GCC, GAA, CTG, and CAG). It is clear that the particular triplet sequence and its location with respect to a gene are important defining factors in dictating the unique mechanism of pathogenesis for each disease. The pathogenic mechanism also varies from disease to disease depending on the consequences of the lost function of the respective proteins or in some cases acquired function of a toxic transcript.

Additional topics

Medicine EncyclopediaGenetics in Medicine - Part 4Triplet Repeat Disease - Implicated In Diseases, Classification Of Triplet Repeat Disorders, Noncoding Triplet Repeat Disorders, Polyglutamine Diseases