biostudies-literatureUnknown12(9)Gantley LTrinucleotide repeat disorders comprise ~20 severe, inherited, human neuromuscular and neurodegenerative disorders, which result from an abnormal expansion of repetitive sequences in the DNA. The most common of these, Huntington's disease (HD), results from expansion of the CAG repeat region in exon 1 of the HTT gene via an unknown mechanism. Since non-coding RNAs have been implicated in the initiation and progression of many diseases, herein we focused on a circular RNA (circRNA) molecule arising from non-canonical splicing (backsplicing) of HTT pre-mRNA. The most abundant circRNA from HTT, circHTT(2-6), was found to be more highly expressed in the frontal cortex of HD patients, compared with healthy controls, and positively correlated with CAG repeat tract lenCells1337https://www.ebi.ac.uk/biostudies/studies/S-EPMC10177161biostudies-literatureFunctional Characterisation of the Circular RNA, circHTT(2-6), in Huntington's Disease.PMC10177161Stringer BWGantley LSlee MConn VMConn SJHanson AHolds DSelth LAOotsuka YLin HKirk KWebb STAliakbari KOrmsby RJfalseFunctional Characterisation of the Circular RNA, circHTT(2-6), in Huntington's Disease.Trinucleotide repeat disorders comprise ~20 severe, inherited, human neuromuscular and neurodegenerative disorders, which result from an abnormal expansion of repetitive sequences in the DNA. The most common of these, Huntington's disease (HD), results from expansion of the CAG repeat region in exon 1 of the HTT gene via an unknown mechanism. Since non-coding RNAs have been implicated in the initiation and progression of many diseases, herein we focused on a circular RNA (circRNA) molecule arising from non-canonical splicing (backsplicing) of HTT pre-mRNA. The most abundant circRNA from HTT, circHTT(2-6), was found to be more highly expressed in the frontal cortex of HD patients, compared with healthy controls, and positively correlated with CAG repeat tract len2023-01-01T00:00:00Z2023 May2025-04-21T22:38:37.671Z2025-04-05T18:53:50.735ZS-EPMC101771613717473710.3390/cells12091337