Current research interests
The research goals of the Diabetes Laboratory & DIABGENE are focused to three topics, i.e. to:
- genetics of monogenic diabetes
- studies on molecular mechanisms of obesity and insulin resistance
- adverse health effects of environmental pollution with organochlorines
Meanwhile the first two topics are in the main scope of our interests and backed up with several research grants, the third one is being tuned down in a step wise fashion.
Genetics of monogenic diabetes is intensively studied within the DIABGENE lab, which was set up in 2003 as a joint project of our Diabetes Lab and of the National Institute of Endocrinology and Diabetes in Lubochna, Slovakia. The DNA diagnostic facilities reside physically at our Institute of Endocrinology in Bratislava and all their activities are headed by prof. Iwar Klimes. The main aims of DIABGENE include providing of molecular genetic testing of various forms of monogenic diabetes for individuals and their families throughout the Slovak Republic, active screening for various subtypes of MODY, P-NDM, T-NDM, MIDD, MELAS, PHI etc. plus operation of a DNA repository. DIABGENE is the only DNA diagnostic and research lab in the field of diabetes and endocrinology in this country. Thus, it coordinates and facilitates at the national level domestic and foreign activities in the aforementioned areas of its interests.
One of the most important scientific achievements of the DIABGENE lab has been its contribution to a multinational study by Pearson et al. and published recently in the New England Journal of Medicine (355 /5/: 21-31, 2006). It was shown that patients with permanent neonatal diabetes due to mutation of the Kir6.2. subunit of the KATP channel in the B cells of the islets of Langerhans can be switched from insulin to oral sulphonylurea with great benefits for their diabetes compensation and quality of life.
DIABGENE laboratory is open from 8.30am to 5.30pm Monday to Friday. For e-mail contact use the address as follows: diabgene@savba.sk
Current projects on investigations of molecular mechanisms of obesity and insulin resistance have naturally evolved from the previous interests of the Diabetes laboratory in studies on mechanisms of the diet-induced metabolic syndrome carried out over the nineties in various animal models (see full list of publications).
Recent clinical studies are focusing at the endocrine function of the adipose tissue in relation to molecular mechanisms of insulin resistance development in obesity, in patients with growth hormone deficiency or excess of glucocorticoids. Various types of fat depots are investigated using different approaches in genomics and proteomics. Clinical situations with serious lack of adipose tissue or with morbid obesity are looked at as well.
Clinical research is going to be paralleled by animal studies focused at the nutritional, environmental and genetic determinants of obesity and diabetes using animal models with different susceptibility to diet-induced insulin resistance and obesity.
Studies on adverse health effects of environmental pollution with organo-chlorines have been intensively pursued during the nineties and early in the third millennium. Between the years 2000-2003, a large project on “Evaluating human health risk from low-dose and long-term PCB exposure“, supported by a research grant from the 5th FP of the EC in Brussels, has been executed. The main data obtained in polluted area of East Slovakia encompass: (a) very high blood levels of polychlorinated biphenyls, pesticides and dioxins, (b) increased volume and frequency of impaired structure of the thyroid gland, (c) higher frequency of thyroid antibodies, (d) increased blood level of free thyroxine and decreased level of thyrotropin, and (e) higher frequency of dysglycemia and type 2 diabetes (see full list of publications). Further papers are to come out.