代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生...代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生子研究显示遗传因素在代谢综合征中各个组分中都扮演着不同程度的重要角色。在代谢综合征患者中有一部分是由于单基因突变所导致的特殊类型的代谢综合征,这些患者的共同特点包括脂质萎缩以及严重的胰岛素抵抗等。导致这些特殊类型代谢综合征发生的单基因突变包括AKT2R274H,PPARs家族的PPARγF388L基因突变、PPARγArg397Cys基因突变、PPARγP467L与PPARγV290M基因突变,核纤层蛋白A/C基因的lamin A G602S突变、LMNA R482W突变等。此外,由于对代谢综合征的定义和理解不同,在代谢综合征的遗传学研究中造成了很大困难。展开更多
BACKGROUND The annual incidence of metabolic-associated fatty liver disease(MAFLD)in China has been increasing and is often overlooked owing to its insidious charac-teristics.Approximately 50%of the patients have a no...BACKGROUND The annual incidence of metabolic-associated fatty liver disease(MAFLD)in China has been increasing and is often overlooked owing to its insidious charac-teristics.Approximately 50%of the patients have a normal weight or are not obese.They are said to have lean-type MAFLD,and few studies of such patients are available.Because MAFLD is associated with abnormal lipid metabolism,lipid-targeted metabolomics was used in this study to provide experimental evidence for early diagnosis and pathogenesis.MAFLD and analyze metabolic pathways.UPLC-Q-Orbitrap/MS content determination was used to determine serum palmitic acid(PA),oleic acid(OA),linoleic acid(LA),and arachidonic acid(AA)levels in lean-type MAFLD patients.RESULTS Urea nitrogen and uric acid levels were higher in lean-type MAFLD patients than in healthy individuals(P<0.05).Alanine transaminase and cholinesterase levels were higher in lean-type MAFLD patients than in healthy indi-viduals(P<0.01).The expression of high-density lipoprotein and apolipoprotein A-1 were lower in lean-type MAFLD patients than in healthy individuals(P<0.05)and the expression of triglycerides and fasting blood glucose were increased(P<0.01).A total of 65 biomarkers that affected the synthesis and metabolism of fatty acids were found with P<0.05 and variable importance in projection>1.The levels of PA,OA,LA,and AA were significantly increased compared with healthy individuals.CONCLUSION The metabolic profiles of lean-type MAFLD patients and healthy participants differed significantly,yielding 65 identified biomarkers.PA,OA,LA,and AA exhibited the most significant changes,offering valuable clinical guidance for prevention and treatment of lean-type MAFLD.展开更多
文摘代谢综合征是指一组与糖尿病和心血管疾病发病风险增加相关联的症候群。不同学术组织对于代谢综合征的定义有所不同,但其基本要素主要包括胰岛素抵抗、异常葡萄糖代谢、高血压、致动脉粥样硬化的脂代谢紊乱、肥胖等。家系研究以及双生子研究显示遗传因素在代谢综合征中各个组分中都扮演着不同程度的重要角色。在代谢综合征患者中有一部分是由于单基因突变所导致的特殊类型的代谢综合征,这些患者的共同特点包括脂质萎缩以及严重的胰岛素抵抗等。导致这些特殊类型代谢综合征发生的单基因突变包括AKT2R274H,PPARs家族的PPARγF388L基因突变、PPARγArg397Cys基因突变、PPARγP467L与PPARγV290M基因突变,核纤层蛋白A/C基因的lamin A G602S突变、LMNA R482W突变等。此外,由于对代谢综合征的定义和理解不同,在代谢综合征的遗传学研究中造成了很大困难。
基金Supported by Shanghai Natural Science Foundation,No.22ZR1455900Shanghai Putuo District Health System Science and Technology Innovation Project Key Project,No.ptkwws202201Shanghai Putuo District Xinglin Excellent Youth Talent Training Program,No.ptxlyq2201.
文摘BACKGROUND The annual incidence of metabolic-associated fatty liver disease(MAFLD)in China has been increasing and is often overlooked owing to its insidious charac-teristics.Approximately 50%of the patients have a normal weight or are not obese.They are said to have lean-type MAFLD,and few studies of such patients are available.Because MAFLD is associated with abnormal lipid metabolism,lipid-targeted metabolomics was used in this study to provide experimental evidence for early diagnosis and pathogenesis.MAFLD and analyze metabolic pathways.UPLC-Q-Orbitrap/MS content determination was used to determine serum palmitic acid(PA),oleic acid(OA),linoleic acid(LA),and arachidonic acid(AA)levels in lean-type MAFLD patients.RESULTS Urea nitrogen and uric acid levels were higher in lean-type MAFLD patients than in healthy individuals(P<0.05).Alanine transaminase and cholinesterase levels were higher in lean-type MAFLD patients than in healthy indi-viduals(P<0.01).The expression of high-density lipoprotein and apolipoprotein A-1 were lower in lean-type MAFLD patients than in healthy individuals(P<0.05)and the expression of triglycerides and fasting blood glucose were increased(P<0.01).A total of 65 biomarkers that affected the synthesis and metabolism of fatty acids were found with P<0.05 and variable importance in projection>1.The levels of PA,OA,LA,and AA were significantly increased compared with healthy individuals.CONCLUSION The metabolic profiles of lean-type MAFLD patients and healthy participants differed significantly,yielding 65 identified biomarkers.PA,OA,LA,and AA exhibited the most significant changes,offering valuable clinical guidance for prevention and treatment of lean-type MAFLD.
