In a recent study in the journal Nature Neuroscience, a research team from the University of Chicago and Johns Hopkins University was able to elucidate one of the factors of irregularity of RNA pathways in two cases of neurodegeneration.
In a recent study in the journal Nature Neuroscience, a research team from the University of Chicago and Johns Hopkins University was able to elucidate one factor of irregularity in RNA metabolism in two cases of neurodegeneration.
Recurrent expansion of the C9ORF72 gene is a common genetic cause of ALS and frontotemporal dementia (FTD), both neurodegenerative diseases in which the structure and function of neurons are gradually lost sequentially.
The research shows that N6-methyladenosine (m6a) is a type of mRNA modulation whose regulation is reduced in patients with ALS and FTD due to C9ORF72.
The study shows that general m6a methylation leads to the stability of mRNA at the level of transcriptome (the sum of all RNA molecules) and structured gene expression, especially for genes involved in synaptic activity and neural function, contributing to disease pathogenesis.
The reduction of m6a increases the accumulation of repetitive RNA and encoded multiple peptides, contributing to the pathogenesis of the disease. By raising the m6a instance, repeated RNA levels of both strands and derived multiple peptides can be significantly reduced, the global messenger RNA balance can be saved, and the survival of iPSC-derived neurons can be improved for those with ALS and FTD due to the C9ORF72 gene.
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Source: Published on Facebook's "Braheen Center" page