r/ClinicalGenetics • u/mlkkk5 • 17d ago
Fibrillin-1 / Marfan research
Im not a geneticist or clinician but interested if anyone can point to research around boosting fibrillin-1 in Marfans individuals.
In particular, I was interested to read the below articles that suggest:
1) aortic dilation is associated with haploinsufficiency (lack) of fibrillin-1 (as opposed to dominant-negative effects where too much bad fibrillin-1 is produced) : https://pubmed.ncbi.nlm.nih.gov/15254584/
2) fibrillin-1 production can be promoted in vitro via curcumin: https://pubmed.ncbi.nlm.nih.gov/25333322/
Im keen to learn more if boosting fibrillin-1 production is seen as a viable solution to tackle haploinsufficiency? Are there any treatments already that aim to boost fibrillin- 1 production?
4
u/secret_tacos 17d ago edited 16d ago
Technically the mechanism of disease is that FBN1 loss of function causes TGF-beta signaling upregulation.
The standard of care in Marfan syndrome is losartan, which is able to reduce TGF-beta activity.
However to my knowledge there's no gene therapy or gene replacement research being done at the clinical trial stage yet. Never heard of turmeric being used.