Abstract
A universal mechanism ties genotype to phenotype in trinucleotide diseases
Highlights
Trinucleotide diseases are hereditary disorders in which a gene that harbors a trinucleotide repeat is inherited with a number of repeats that exceeds a disease-specific threshold [1,2]
The repeat is located in noncoding regions: in the muscle disease myotonic dystrophy type 1 (DM1) [1,5] the CTG repeat is located in the 39 untranslated region (UTR) of the gene DMPK, and in Friedreich ataxia [1,5,6] (FRDA) a GAA repeat is located within the first intron of the gene FRDA
Trinucleotide diseases are a broad family of hereditary diseases characterized genetically by an expanded DNA region consisting of a repeated three-letter code
Summary
Trinucleotide diseases are hereditary disorders in which a gene that harbors a trinucleotide repeat is inherited with a number of repeats that exceeds a disease-specific threshold [1,2]. The disease has no symptoms for many years until a sudden onset at an age that is inversely correlated with the number of inherited repeats [2,4,8,9,10,11]. When the number of repeats exceeds 70, the disease has juvenile onset; there are cases of childhood onset for even longer repeats [12,13]. These relations of onset age and the number of repeats are similar in other diseases, and are typically characterized by an exponential curve in which the change in the age of onset as a result of additional inherited repeat reduces with the number of repeats [4,8,14]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callSimilar Papers
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
