ABCMdb

PMID: 22378727

Myrie SB, Mymin D, Triggs-Raine B, Jones PJ
Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals.
Am J Clin Nutr. 2012 Apr;95(4):837-44. Epub 2012 Feb 29., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCG8 p.Ser107* Objective: This study assessed the responsiveness of circulating PS and lipid concentrations and cholesterol kinetics (absorption and synthesis) to daily PS supplementation in HET (ABCG8 S107X mutation) compared with a healthy control cohort. Login to comment 8 ABCG8 p.Ser107* Conclusion: These data suggest that heterozygosity for the ABCG8 S107X mutation does not influence the action of dietary PS on circulating cholesterol concentrations but may affect sterol absorption. Login to comment 35 ABCG8 p.Ser107* These volunteers were related to a proband reported by Mymin et al (17, 18) to have the ABCG8 S107X mutation. Login to comment 36 ABCG8 p.Ser107* Thus, genotyping for the ABCG8 S107X mutation was used to identify phytosterolemia heterozygotes (HET; n = 10) and control subjects (control; n = 15). Login to comment 37 ABCG8 p.Ser107* Individuals homozygous for the ABCG8 S107X mutation or with thyroid disease, diabetes mellitus, kidney disease, or liver disease were excluded from the study. Login to comment 173 ABCG8 p.Ser107* In the current study, heterozygosity for the ABCG8 S107X mutation was found to be associated with increased plasma PS (campesterol+b-sitosterol) concentrations and lower lathosterol concentrations; however, using stable-isotope techniques we found no significant effects on cholesterol absorption or fractional synthesis in the HET group compared with the control group. Login to comment 174 ABCG8 p.Ser107* In conclusion, the current work suggests that, although the ABCG8 S107X heterozygous mutation affected plasma PS concentrations, there seems to be a lack of effect of this mutation on cholesterol metabolism. Login to comment