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The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
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The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
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Journal Article
The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
2017
Overview
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (
HTTexon1
) that encodes the highly pathogenic exon 1 HTT protein. The level of this read-through product is proportional to CAG repeat length and is present in all knock-in mouse models of Huntington’s disease (HD) with CAG lengths of 50 and above and in the YAC128 and BACHD mouse models, both of which express a copy of the human
HTT
gene. We have now developed specific protocols for the quantitative analysis of the transcript levels of
HTTexon1
in human tissue and applied these to a series of fibroblast lines and
post-mortem
brain samples from individuals with either adult-onset or juvenile-onset HD. We found that the
HTTexon1
mRNA is present in fibroblasts from juvenile HD patients and can also be readily detected in the sensory motor cortex, hippocampus and cerebellum of
post-mortem
brains from HD individuals, particularly in those with early onset disease. This finding will have important implications for strategies to lower mutant
HTT
levels in patients and the design of future therapeutics.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 38/90
/ 82
/ 82/1
/ Alternative Splicing - genetics
/ Animals
/ Autopsy
/ Cerebellum - physiopathology
/ Female
/ Hippocampus - physiopathology
/ Humanities and Social Sciences
/ Humans
/ Huntingtin Protein - genetics
/ Huntington Disease - genetics
/ Huntington Disease - physiopathology
/ Male
/ Mice
/ Rodents
/ Science
/ Sensorimotor Cortex - physiopathology
/ Splicing
