Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.
Jesse Barnes, Franklin Salas, Ryan Mokhtari and 3 others
PMID 30147856WHAT IT FOUND
Neurons grown from boys with Lowe syndrome showed disorganized F-actin and WAVE-1, unlike an engineered OCRL knockout line.
This is a cell model, not a clinical outcome.
Key findings
01Patient-derived neural cells showed disorganized F-actin staining and large patchy WAVE-1 inclusions.
02The OCRL knockout line did not show the same F-actin or WAVE-1 abnormalities.
03PI(4,5)P2 was about 25% higher in patient neural cells than in unaffected siblings and was also increased in the knockout line.
STILL TO COME
How it was doneWhat they found
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
The study reports laboratory cell findings, not patient treatment outcomes. Only a small number of patient and control cell lines were examined. The knockout line did not replicate the patient-cell abnormalities, so the model may not match complete OCRL absence. The authors say additional knockout lines are still being generated to confirm the findings.
Declared interests
No conflict-of-interest declaration is included in the supplied text. The publication types list research support from NIH extramural, non-U.S. government, and U.S. government non-P.H.S. sources.
The easy way to misread this
Do not read the cellular changes as proof of a clinical mechanism in patients or as a reason to change therapy. The study examined cells grown from boys with Lowe syndrome, and the engineered knockout line did not show the same F-actin or WAVE-1 abnormalities.