Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiopoietin-like protein 3 (ANGPTL3) is secreted by the liver and was recently postulated to be an important hormone regulating serum triglyceride levels. In the present study, in order to clarify the regulation of ANGPTL3 gene expression in diabetic states, we examined mRNA and protein levels of ANGPTL3 in the livers of diabetic animals. The level of ANGPTL3 mRNA was increased approximately 2.2-fold in the livers of streptozotocin (STZ) diabetic mice, and this effect was reversed by administration of insulin. Furthermore, the level of ANGPTL3 mRNA was increased more than 3.0-fold in type 2 diabetic obese mice, db/db mice, as compared with age matched lean littermates. The hepatic level of ANGPTL3 protein was also increased in these diabetic mice to an extent similar to that of ANGPTL3 mRNA. Thus, the expression of ANGPTL3 was enhanced in both insulin-deficient and -resistant diabetic states. These results strongly suggest ANGPTL3 to play an important role in hyperlipidemia in diabetes.
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PMID:ANGPTL3 is increased in both insulin-deficient and -resistant diabetic states. 1509 78

Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we reevaluated the clinical and the biochemical characteristics of all reported cases of FHBL2. One hundred fifteen FHBL2 individuals carrying 13 different mutations in the ANGPTL3 gene (14 homozygotes, 8 compound heterozygotes, and 93 heterozygotes) and 402 controls were considered. Carriers of two mutant alleles had undetectable plasma levels of ANGPTL3 protein, whereas heterozygotes showed a reduction ranging from 34% to 88%, according to genotype. Compared with controls, homozygotes as well as heterozygotes showed a significant reduction of all plasma lipoproteins, while no difference in lipoprotein(a) [Lp(a)] levels was detected between groups. The prevalence of fatty liver was not different in FHBL2 subjects compared with controls. Notably, diabetes mellitus and cardiovascular disease were absent among homozygotes. FHBL2 trait is inherited in a codominant manner, and the lipid-lowering effect of two ANGPTL3 mutant alleles was more than four times larger than that of one mutant allele. No changes in Lp(a) were detected in FHBL2. Furthermore, our analysis confirmed that FHBL2 is not associated with adverse clinical sequelae. The possibility that FHBL2 confers lower risk of diabetes and cardiovascular disease warrants more detailed investigation.
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PMID:Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis. 2405 1