Variation in the genes for thiamine transporters is not a risk factor for diabetes-related morbidity and mortality

Název česky Variabilita v genech pro tiaminove transportery nejsou rizikové faktory pre diabetickú morbiditu a mortalitu.
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KURICOVÁ Katarína DVOŘÁKOVÁ Veronika PÁCAL Lukáš MARČANOVÁ Zuzana SVOJANOVSKÝ Jan KRUSOVÁ Darja OLŠOVSKÝ Jindřich BĚLOBRÁDKOVÁ Jana ŘEHOŘOVÁ Jitka KAŇKOVÁ Kateřina

Rok publikování 2013
Druh Konferenční abstrakty
Citace
Popis Pentose phosphate pathway (PPP) belongs to the potential targets for the treatment of diabetic microvascular complications. Activation of transketolase (TKT), the key enzyme of non-oxidative branch of PPP, using thiamine supplementation prevents development and progression of diabetic nephropathy in animal model of diabetes. Thiamine which serves as a cofactor for TKT is delivered to the cell via specific thiamine transporters 1 (THTR 1 encoded by the gene SLC19A2) and 2 (THTR 2 encoded by SLC19A3). Plasma thiamine levels in diabetics are decreased due to increased thiamine renal clearance. We have recently demonstrated rise of plasma thiamine in subjects with decreased renal function, however, we did not show parallel increase of intracellular active cofactor [Pácal et al. Nephrol Dial Transplant 2011]. Therefore we propose that major abnormalities in thiamine metabolism most likely take place on the level of thiamine transport into the cell. SNPs in the genes for the thiamine transporters may potentially affect activity of thiamine transport and thus contribute to the progression of DN. The aim of our study was to analyze relationship between genetic variability in SLC19A2 and SLC19A3 loci and diabetes-related morbidity and mortality.
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