POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
In this short academic paper from 2021, the authors review what we know about the cause of 4H Leukodystrophy: POLR3 genes provide instructions for subunits of RNA polymerase III, meaning changes in these genes can impair the enzyme’s function. So how do we get from RNA polymerase III dysfunction to hypomyelination? We still don’t know, but the authors propose two possible explanations. Even if you’re not keen on reading this one, it has a color-coded picture of RNA polymerase III that can help with visualization.
Coulombe, Benoit et al. “POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?.” Faculty reviews vol. 10 12. 5 Feb. 2021, doi:10.12703/r/10-12