C9orf72 RNA Foci Formation Assay

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C9orf72 RNA Foci Formation in Amyotrophic Lateral Sclerosis (ALS)

ALS is a rapidly progressive neurodegenerative disorder of adult age characterized by a fatal degeneration of upper and lower motor neurons, leading to paralysis and death from respiratory failure within a few years of symptom onset. While 5-10% of cases are genetically transmitted (familial ALS), most of the cases are classified as sporadic (sporadic ALS).

ALS is one of the common clinical disorders associated with C9orf72 mutations. The GGGGCC hexanucleotide expansion mutations in C9orf72 are recognized as the major contributor to this form of neurodegenerative disease at present. Since its discovery, C9orf72 has demonstrated its importance in neurological diseases, especially in frontotemporal disorder (FTD) and ALS. C9orf72 mutations are responsible for the highest prevalence of inherited neurodegenerative diseases. The high incidence of C9orf72 mutation indicated by recent epidemiologic data in these neurological diseases is an important observation to explain. Mounting evidence indicated that the C9orf72 mutation, as a cause of familial ALS, is more than twice as common mutations in the SOD1 gene and almost three times as TARDBP, FUS, OPTN, and VCP mutations together. This genetic mutation accounted for a large proportion of ALS patients in many countries.

Fig. 1. C9orf72 gene structure. (McEachin, et al., 2020)

RNA Foci as a Hallmark Pathology in c9ALS/FTD Patients

C9orf72 RNAs containing either GGGGCC or CCCCGG repeats with atypical secondary structures are thought to form RNA foci and interact with RNA binding proteins. RNA foci are commonly visualized by using fluorescence in situ hybridization (FISH) with fluorophore-tagged probes against the repeats. Many labs have detected both sense and antisense RNA foci in multiple central nervous system regions in C9ALS/FTD patients and these foci are considered to be one of the pathological hallmarks. In general, RNA foci are most abundant in neurons, but can also be found in astrocytes, oligodendrocytes, and microglia at a lower frequency. In addition, RNA foci can be detected in peripheral blood leukocytes, skin fibroblast, and patient iPSC-derived neurons, serving as an important disease biomarker.

Fig. 2. Summary of misregulated RNA processing events in c9ALS/FTD. (Barker, et al., 2017)

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Creative Biolabs has been focusing on neuroscience research for years and has accumulated extensive experience in ALS research. Based on years of experience and investment, our optimized in vitro assay platform is capable of offering quality-assured C9orf72 RNA foci formation assay services to global customers to help accelerate ALS research.

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References

1. McEachin, Z. T.; et al. RNA-mediated toxicity in C9orf72 ALS and FTD. Neurobiol Dis. 2020, 145: 105055.
2. Barker, H. V.; et al. RNA Misprocessing in C9orf72-Linked Neurodegeneration. Front Cell Neurosci. 2017, 11: 195.