Epigenetics hexanucleotide repeat dna repeat expansion. Medical search. Frequent questions

DNA methyltransferases (DNMTs) are involved in regulation of the electrophysiological landscape of the brain through methylation of CpGs. (wikipedia.org)
We performed a systematic analysis of blood DNA methylation profiles from 4,483 participants from seven independent cohorts identifying differentially methylated positions (DMPs) associated with psychosis, schizophrenia and treatment-resistant schizophrenia. (elifesciences.org)
Psychosis cases were characterized by significant differences in measures of blood cell proportions and elevated smoking exposure derived from the DNA methylation data, with the largest differences seen in treatment-resistant schizophrenia patients. (elifesciences.org)
Many schizophrenia-associated DNA methylation differences were only present in patients with treatment-resistant schizophrenia, potentially reflecting exposure to the atypical antipsychotic clozapine. (elifesciences.org)
Our results highlight how DNA methylation data can be leveraged to identify physiological (e.g., differential cell counts) and environmental (e.g., smoking) factors associated with psychosis and molecular biomarkers of treatment-resistant schizophrenia. (elifesciences.org)

Other silencing mechanisms include the recruitment of specialized proteins that methylate DNA such that the core promoter element is inaccessible to transcription factors and RNA polymerase. (wikipedia.org)
This enabled the diversified complementarity and secondary structures that allow RNA species to specifically interact with other components of the cellular machinery such as DNA and proteins. (pharmaceuticalintelligence.com)

Methods: Participant samples from University of Michigan were genotyped and assayed for the chromosome 9 open reading frame 72 hexanucleotide expansion. (bvsalud.org)

And, G-quadruplex formation on single stranded DNA is one of the ways that the telomeric DNA is protected from oxidative stress and from triggering the DNA-damage response (DDR), which causes cellular senescence. (anti-agingfirewalls.com)

These unusual DNA structures play critical roles in regulation of very basic biological functions and are integral part of the complex regulatory systems of living beings. (anti-agingfirewalls.com)

DNA isn't the only decorated nucleic acid in the cell. (pharmaceuticalintelligence.com)

9. The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD. (nih.gov)
An expansion of the hexanucleotide (GGGGCC) repeat sequence in chromosome 9 open frame 72 (c9orf72) is the most common genetic mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). (bvsalud.org)

3. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo. (nih.gov)

10. Repeated repeat problems: Combinatorial effect of C9orf72-derived dipeptide repeat proteins. (nih.gov)
11. C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation. (nih.gov)
12. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. (nih.gov)
14. Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity. (nih.gov)
This so-called large hexanucleotide repeat disrupts the C9ORF72 gene located on chromosome 9. (nih.gov)
The discovery of the C9ORF72 hexanucleotide repeat expansion is a landmark discovery in our understanding of neurodegenerative disease. (nih.gov)

1. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. (nih.gov)
8. Arginine-rich dipeptide-repeat proteins as phase disruptors in C9-ALS/FTD. (nih.gov)
The mutation leads to the production of toxic dipeptide repeat proteins (DPRs) that induce neurodegeneration. (bvsalud.org)