Written Q & A from Mingshan Xue’s Research Webinar

29 September 2020

On 29 September 2020, Mingshan Xue provided an update on his lab’s research on How Different Neurons in the Brain Contribute to STXBP1 Encephalopathy. The video is here. He also stayed after to provide written answers to additional audience questions.

Audience Question:
Do you think that a gene therapy could help both younger and older patients?

Written Answer from Mingshan Xue: 
I hope so, will test this

Audience Question:
How do you plan to deliver the vector in mice study?

Written Answer from Mingshan Xue: 
Injection works well in mice, but need to work on this for human brains

Audience Question:
How could a PPI inhibitor which targets the alpha-helical syntaxin-1A interaction be a potential use in STXBP1 haploinsufficiency-associated epileptic disorders? How does it work?

Written Answer from Mingshan Xue: 
Possible, a group is testing this

Audience Question:
Is it known why some kids start having seizures at the very young age of for example 2 months and others at an age of for example, let‘s say 6? And some don’t get any seizures?

Written Answer from Mingshan Xue: 
We don’t know yet

Audience Question:
Do you think the mouse strain / genetic background would alter the phenotype, especially the seizure phenotype you see in your models?

Written Answer from Mingshan Xue: 
Possible, but we haven’t tested different backgrounds yet

Audience Question:
Have poison exons, which can dampen a gene‘s expression, been found in the STXBP1 gene and if true what does this exactly mean for STXBP1 transmitter release?

Written Answer from Mingshan Xue: 
No

Audience Question:
Does the function of STXBP1 change depending on the age of the mouse?  We do see function change in the children as they age.  These changes seem similar in different children as they reach certain ages

Written Answer from Mingshan Xue: 
Not in mice

Audience Question:
Thank you Mingshan for a very interesting presentation! Have you tested if the low levels of STXBP1 differently effect the levels of other genes in the different neuron types?

Written Answer from Mingshan Xue: 
No, not yet