UNC13A cryptic splicing was linked to cognitive decline in Alzheimer’s disease
Original source
The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Related topics
Higher levels of UNC13A cryptic RNA in the amygdala were associated with greater cognitive decline in Alzheimer’s disease. The study found that the genetic variant linked to this splicing change was associated with cognitive decline, but not with TDP-43 pathology or survival.
Why this matters
UNC13A is relevant to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia because the same variant has been associated with disease risk and survival in those conditions. However, this study examined Alzheimer’s disease, so it does not show that UNC13A cryptic splicing causes cognitive problems in ALS or change ALS treatment.
Limitations and context
This was an observational study of Alzheimer’s disease cohorts, including 1,672 people with Alzheimer’s disease and a smaller subgroup of 73 cases assessed for cryptic RNA. The findings do not establish causation or demonstrate a treatment benefit in ALS. The study’s conclusions about ALS and frontotemporal dementia are context from prior associations, not results from an ALS cohort.