KIAA1324 protein was reduced in neurons with TDP-43 pathology in ALS brains
Original source
Lost in translation: absence of KIAA1324/ELAPOR1 protein in pathological TDP-43-affected neurons in ALS/FTD. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human, Cells
Related topics
KIAA1324 protein was significantly lower in neurons showing pathological TDP-43 in post-mortem brain tissue from people with amyotrophic lateral sclerosis (ALS). In laboratory models, loss of nuclear TDP-43 increased KIAA1324 messenger RNA, but changes to the RNA may reduce how efficiently the protein is made. The findings link impaired KIAA1324 protein function to TDP-43 disease mechanisms.
Why this matters
This identifies a possible downstream process involved in ALS and frontotemporal dementia (FTD). The study also found that increased KIAA1324 protein affected a network of mitochondrial proteins in cultured cells. These are mechanistic findings from human tissue and laboratory models, so they do not currently change treatment or show that targeting KIAA1324 benefits people with ALS or FTD.
Limitations and context
The human-tissue analysis included 10 ALS brains and 10 control brains. Other experiments used induced-pluripotent-stem-cell-derived neurons and SH-SY5Y cells rather than people. The proposed effect of alternative polyadenylation on protein production is a hypothesis, and the work did not test a treatment or establish that KIAA1324 is a safe or effective therapeutic target.