#AI Reads Urine# Urine BMP is lowered in frontotemporal dementia due to progranulin mutations
Published 13 January, 2025
This study focuses on the alteration of bis(monoacylglycerol)phosphate (BMP) levels in the urine of frontotemporal dementia (FTD) patients and its potential as a biomarker for FTD-related gene mutations. GRN mutations are a common cause of FTD, and prior research has associated granulin deficiency with decreased BMP levels, which impacts ganglioside degradation and lysosomal function. The hypothesis was that FTD patients with GRN haploinsufficiency would have lower urine BMP isoform levels compared to those with FTD caused by C9orf72 expansions, MAPT mutations, or healthy controls.
The research was conducted on the UCL GENFI cohort, which included 36 controls, 11 symptomatic GRN mutation carriers, 11 symptomatic C9orf72 carriers, and 12 symptomatic MAPT mutation carriers. Urine samples were analyzed for 3 different di-22:6 BMP, 3 di-18:1 BMP isoforms, and total di-22:6 and di-18:1 BMP using mass spectrometry and normalized to creatinine. Data analysis was performed in Stata with age and sex-adjusted bootstrapped regression.
The results showed that GRN mutation carriers had significantly lower levels of the 2:2 di-22:6 BMP isoform compared to controls (p = 0.015), and a decreasing trend was also observed for the 2:2 di-18:1 BMP isoform. However, there were no significant differences in the concentrations of 2:3, 3:3 isoforms, and the total amount between the control and mutation groups.
In conclusion, GRN mutations lead to a reduction in certain BMP isoforms in urine. Future studies are needed to explore whether treatments restoring progranulin levels can increase urine BMP concentrations.
Alzheimers Dement. 2025 Jan 9;20(Suppl 2):e086871. DOI: 10.1002/alz.086871.
https://alz-journals.onlinelibrary.wiley.com/doi/10.1002/alz.086871
Youhe Gao
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