Back to Search
Start Over
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
- Source :
- Science
- Publication Year :
- 2016
-
Abstract
- Targeting three defects with one strategy The neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia are most commonly caused by a mutation in the C9orf72 gene. The mutation is an expanded hexanucleotide repeat in a noncoding region. The expanded repeat produces sense and antisense RNA transcripts, which accumulate in patient cells and appear to sequester RNA-binding proteins. The sense and antisense transcripts are also translated into dipeptide repeat proteins, which are aggregation-prone and accumulate in the brain and spinal cord. Last, loss of function from reduced expression of C9orf72 in neurons and glia could contribute to the disease. Kramer et al. targeted both sense and antisense repeats by blocking a single gene called SPT4 , which mitigated degeneration in human cells by reducing all three types of pathologies. Science , this issue p. 708
- Subjects :
- 0301 basic medicine
Saccharomyces cerevisiae Proteins
Transcription, Genetic
Biology
Article
03 medical and health sciences
Transcription (biology)
Sense (molecular biology)
Gene Knockdown Techniques
Animals
Humans
RNA, Small Interfering
Caenorhabditis elegans
Cells, Cultured
Genetics
Gene knockdown
DNA Repeat Expansion
Multidisciplinary
C9orf72 Protein
Amyotrophic Lateral Sclerosis
Nuclear Proteins
Proteins
RNA
Dipeptides
Antisense RNA
Cell biology
Repressor Proteins
Disease Models, Animal
Drosophila melanogaster
030104 developmental biology
Gene Expression Regulation
Frontotemporal Dementia
Protein Biosynthesis
Transcriptional Elongation Factors
Engineering sciences. Technology
Subjects
Details
- Language :
- English
- ISSN :
- 00368075
- Database :
- OpenAIRE
- Journal :
- Science
- Accession number :
- edsair.doi.dedup.....c663f3c6a55485e870e65c09d3f6ff72