Strides in STXBP1: What Happened Last Month in STXBP1 Research?
Hey there. Welcome to our news round-up, where we talk about what happened in STXBP1 research in the previous month. Even though STXBP1 is not common, scientists from all around the world are working really hard to understand the gene, protein, and disorder better. Every month, they publish research papers about STXBP1, and in this news round-up, we'll share some interesting things they found out.
So, what was new in January 2024?
A group of scientists at the University of Liverpool found that a chaperone protein known as CSP appears to interact with STXBP1. Chaperone proteins can protect other proteins from being degraded and removed from cells and this is how we think the drug used in the 4-phenylbutyrate trial works. The research from Liverpool suggests that drugs that increase the activity of CSP could have a positive effect on STXBP1 and could represent a new area of research.
In a study conducted at Beijing Children’s Hospital of 32 children with various developmental and epileptic encephalopathies, a ketogenic diet was found to decrease the number of seizures in 80% of the kids. The researchers found that children with STXBP1 were especially responsive to the diet with 4 out of the 5 kids becoming seizure free.
A study published by Noah Guiberson from Weill Cornell in New York showed how mutations in the STXBP1 gene interfere with two other proteins found in neuron synapses. Interestingly, he found that how much interference there was depended on the type of mutation in the STXBP1 gene, with a missense mutation causing a more severe problem. This may help explain some of the wide differences we see in the symptoms of STXBP1 patients. By the way, Noah was just awarded a grant from Uplifting Athletes that was co-funded by the Foundation; you can read more about that here.
Researchers at the Medical University of Gdansk in Poland performed panel-based and exome sequencing on 127 Polish and Ukrainian patients with epilepsy. They found a genetic cause in 36% of the patients including 2 with mutations in STXBP1. The study confirms the importance of genetic testing in diagnosing epilepsy.
STXBP1 is well known to be involved in the release of neurotransmitter from synaptic vesicles to allow neurons to talk to one another. Scientists at Jinan University in China demonstrated that STXBP1 is also plays a role in releasing another type of vesicle, called an extracellular vesicle (EV), from neurons. EVs contain a variety of different proteins and other types of molecules and are thought to be involved in numerous biological processes. This finding raises questions about whether normal EV biology is changed in STXBP1 disorder.
Finally, our friends and colleagues at CHOP, led by Ingo Helbig, published research looking at early onset seizures in STXBP1 children. They concluded that such seizures do not increase the risk of kids developing epileptic spasms nor does the use of certain antiseizure medications.
