Evidence for the down-regulation of ATP6V1H gene expression in type 2 diabetes




Molina, Melanie

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According to the World Health Organization, there are approximately 346 million cases of diabetes worldwide, 90% of which are accredited specifically to type 2 diabetes. As type 2 diabetes continues to raise concern, researchers are beginning to turn their focus to the inherent factors that predispose individuals to the disease, one of which is genetics. Recently, a higher prevalence of type 2 diabetes was observed in a 2,500-member cohort of Mexican-Americans established on the US-Mexican border, specifically in Brownsville (Cameron County), Texas. The purpose of this research was threefold: 1) to study the demographic and physiological parameters of nine individuals in the CCHC who developed diabetes over the three years of the study period; 2) to investigate whether the gene encoding subunit H of V-ATPase (ATP6V1H) was down-regulated in the nine individuals as they progressed from pre-diabetes to type 2 diabetes; 3) to perform an extensive literature review of the ATP6V1H gene and its protein product, V-ATPase subunit H, to postulate what role it might play in the development of diabetes and its complications. Of the nine participants that developed type 2 diabetes, six were female and three were male (ages ranged from 38-81). Six different physiological parameters were measured in each individual at the time of their first and last visits to the clinic: triglyceride, cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, glucose and HbA1c. Higher levels of triglyceride, HDL cholesterol and glucose were found in the 9 individuals as they progressed from pre-diabetes to type 2 diabetes. These differences were statistically significant. There were no statistically significant differences in any of the other measured parameters. The gene expression of ATP6V1H was assayed using microarray techniques and a paired Z test revealed a statistically significant decrease (p-value = 7.18 x 10-11) in expression in all nine participants.


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