Subcellular organization of UBE3A in human cerebral cortex.
Alain C Burette, Matthew C Judson, Alissa N Li and 4 others
PMID 30364390WHAT IT FOUND
In brain tissue removed during epilepsy surgery, UBE3A was found in nuclei, cell bodies, and processes of excitatory and inhibitory neurons, and in glia.
This describes protein location; it does not show a treatment works.
Key findings
01UBE3A was found in neurons throughout the depth of the human temporal cortex, concentrated in nuclei, with additional staining in cell bodies, proximal dendrites, and neuropil.
02UBE3A was present in GABAergic neurons and pyramidal neurons, and nuclear UBE3A was reported as 38 ± 6.4% higher in pyramidal neurons than in GABAergic neurons in material from three biopsy subjects (n = 51).
03Electron microscopy showed UBE3A in euchromatin-rich nuclear domains, Golgi membranes, mitochondria, dendritic spines, and presynaptic terminals, including GABAergic terminals.
STILL TO COME
How it was doneWhat they found
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What it does not show
Human tissue analysed came from 9 epilepsy surgery biopsies, not from people with Angelman syndrome or autism. The only available Angelman syndrome postmortem samples were too degraded for micro-anatomical study. The study describes where UBE3A sits in cells; it does not measure protein activity, synaptic function, or clinical outcomes. Small numbers of cases and tissue from specific cortical layers limit how broadly the pattern can be applied. Fixation delay and tissue quality can affect staining, although mouse controls were used to check these issues.
Declared interests
The study was supported by the National Institutes of Health and the Angelman Syndrome Foundation. No other conflicts of interest are stated.
The easy way to misread this
Do not read the localization of UBE3A as evidence that a treatment works or that these findings apply to people with Angelman syndrome. The human tissue analysed came from epilepsy surgery biopsies, and Angelman syndrome autopsy samples were too degraded for micro-anatomical study.