C9orf72 was linked to disrupted liver lipid production in a laboratory study
Original source
C9orf72 controls hepatic lipid metabolism by regulating SREBP1 transport. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human, Mouse
Related topics
A study found that losing C9orf72 reduced production of SEC16A, disrupting transport processes needed to activate lipid-making proteins in liver cells. The researchers linked this to reduced production of new fats. C9orf72 expansions are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, but the study examined liver lipid metabolism rather than an ALS treatment.
Why this matters
The findings may help researchers understand a metabolic function of C9orf72 and could inform future work on therapies targeting lipid regulation. They do not show a benefit for people with ALS, and they do not change current treatment.
Limitations and context
This is a single primary research article. The supplied abstract does not describe the study models, sample size, or whether the findings apply to people with C9orf72-associated ALS. It reports a biological mechanism and suggests a possible target for obesity, not an evaluated ALS therapy or clinical outcome.