Article Figures & Data
Figures
- Figure 1 Proposed Mechanisms of C9ORF72 Expansion
(A) The C9ORF72 gene contains a polymorphic hexanucleotide (GGGGCC) repeat in a noncoding region. (B) RNA transcripts with the C9ORF72 repeat expansions are produced by both sense and antisense transcription, resulting in the accumulation of nuclear and cytoplasmic aggregation of both sense and antisense repeat-containing RNA. Repeat-containing RNA can cause sequestration of essential RNA-binding proteins leading to defects in pre-mRNA splicing. (C) Expansion repeat is a substrate for non–ATG-dependent translation event that generates dipeptide repeat proteins that cause toxicity through aggregation and altering multiple essential cellular functions. (D) Repeat expansion can interfere with transcription and cause downregulation of C9ORF72 gene expression and loss of C9ORF72 protein function. Adapted from Gitler et al. There has been an awakening: Emerging mechanisms C9orf72 mutations in FTD/ALS. Brain Res. 2016;1647.
- Figure 2 Variable
(A) RP-PCR/CE representative profile for a heterozygote normal range repeats denoted by the arrows indicate repeat with corresponding size below (2 and 10). (B) RP-PCR/CE fragment representative of a normal expanded repeats of (2 and 27), note the diminishing signal peak as the repeat becomes larger. (C) RP-PCR/CE representative of an expanded repeat greater than 30.
- Figure 3 Variable Interpretations of the C9orf72 Hexanucleotide Repeat Number Among Commercial Laboratories
Jennifer Roggenbuck. Neurol Genet. 2021;7:e542.
- Figure 4 Synergistic Effect of C9ORF72 Gain of Toxicity and Loss of Function
Loss of C9orf72 function exacerbates the accumulation of poly-dipeptide repeat proteins and leads to cellular toxicity. Zhu Q, et al. Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nat Neurosci. 2020;23(5):615–624.
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