Mutations in the PHF3 protein could be a cause of glioblastomas and autism 

BioTechniques News
Aisha Al-Janabi

Researchers have shown a possible link between the PHF3 protein’s role in glioblastomas and autism, through its importance in transcription.

recent multicenter European study led by microbiologist Dea Slade of the University of Vienna (Austria) has examined the suspected role of the protein PH3 in transcription and its link with autism and glioblastoma. The team found that PHF3 binds to RNA polymerase and influences transcription highlighting a potential new target for the treatment of these conditions. 

It has been observed that patients with autism often have a high level of PHF3 mutations and that the protein is also seen at lower levels in patients with glioblastoma. However, the reason for these associations had not been discovered. 

Recent findings have highlighted that PH3 could play a role in transcription, which could provide a potential explanation for the protein’s relationship with glioblastoma and autism. The researchers investigated the role of PH3 in transcription in HEK293T cell lines, analyzing the biochemical interactions between RNA polymerase II (Pol II) and PHF3 using protein purification techniques and different forms of spectroscopy. They also used a mouse stem cell model to examine the knockout effect of PHF3. 

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After initially demonstrating that PHF3 uses the domain SPOC to bind to the C-terminal domain of POL II, Slade and her team also, “…looked at the level of differentiation, that is, how the cellular network is affected. This gives us a very detailed insight into the role that PHF3 plays in neuronal cell development.” 

The results illustrated that if PHF3 cannot bind to RNA polymerase II, due to a knockout or mutation that deletes the SPOC domain, it can lead to defects in neuronal differentiation. The defects occur because PH3F is an effector of neuronal gene regulation, acting as a bridge between transcription and mRNA stability or decay. 

The findings suggest a correlation between the absence or mutation of PHF3 and the development of autism and glioblastoma. 

Further studies in animal models need to be conducted to gain a better understanding and see if the knockout or mutation of SPOC or PHF3 could be a target for future treatments of autism and glioblastomas. 

The post Mutations in the PHF3 protein could be a cause of glioblastomas and autism  appeared first on BioTechniques.

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