Fig. 4: Metabolic alterations in gbh-1 mutant strains revealed by HPLC-MS.
From: Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
A A substantial accumulation of γ-butyrobetaine in gbh-1(ko), gbh-1(G247Vfs*6), and gbh-1(G283R) mutants, exhibiting over a 50-fold increase compared to wild-type N2 worms. A modest increase of approximately 2-fold and statistically significant (non-paired t-test) is observed in gbh-1(D72G) mutants. The y-axis represents fold changes; B L-carnitine is undetectable in gbh-1(ko), gbh-1(G247Vfs*6), and gbh-1(G283R) strains, indicating a disruption in its biosynthesis. In contrast, gbh-1(D72G) worms maintain comparable L-carnitine levels to N2 worms. The y-axis represents fold changes; C The acylcarnitine spectrum is markedly absent in gbh-1(ko), gbh-1(G247Vfs*6), and gbh-1(G283R) worms, as reflected by non-detectable levels across these mutants. Metabolites upstream of γ-butyrobetaine do not display significant changes. The y-axis represents the log2 fold change. A & B Statistical significance: p = 0.0312 and p > 0.05 (ns) (unpaired t-test). Bar graphs represent the normalized ratio against metabolite quantification of wild-type samples in each dataset. Error bars represent the standard error of the mean.
