AI Article Synopsis
- The study investigates the role of a mutation in the 3'UTR of the C1 inhibitor gene in relation to hereditary angioedema (HAE).
- Researchers found a 155 bp deletion in affected family members that reduced both mRNA and C1-INH protein levels.
- The conclusion suggests that this mutation disrupts gene expression pathways, causing a deficiency that leads to HAE symptoms in the family.
Article Abstract
Purpose: Sequences within the non-coding 3'UTR (untranslated region) of genes were reported to be involved in the regulation of gene expression by modifying pathways of (co)transcription, post-transcriptional processing and RNA transport. However, direct biological evidence (i.e., knock-out models) is sparse. This report intends to correlate the first reported alteration within the 3'UTR of the C1 inhibitor (C1-INH) gene with clinical presentation of hereditary angioedema (HAE).
Methods And Results: Direct sequencing of genomic DNA revealed in all affected members of a family suffering from HAE a heterozygous 155 bp deletion 100 bp downstream of the physiological stop-codon in exon 8. A substantial reduction of both mRNA as well as C1-INH protein expression was revealed by RT-PCR and nephelometry, respectively.
Conclusion: We suppose that the mutation within the 3'UTR interferes with integral pathways of gene expression leading to pathogenic haploinsufficiency in this family.
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| http://dx.doi.org/10.1097/01.gim.0000214302.90076.fa | DOI Listing |
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