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Type 2 diabetes is a predisposed genetic disease; heredity is the predominant factor. The origin of diabetes is multifactorial and polygenic based. This means that it is a disease which is genetically determined by the interaction of abnormal genes, but which only manifests itself in the presence of contributing environmental factors. Obesity is often associated with diabetes. Physical exercise and a good diet often help to overcome the symptoms.

Presentations listing

Genetics of Obesity - Dr. Claude Bouchard
Genetics of Type 2 Diabetes and the Metabolic Syndrome? - Prof. Leif C Groop

"Genetics of Obesity"

Dr. Claude Bouchard (biography)
English - 2005-04-14 - 39 minutes
(44 slides)

Summary :
Obesity is one of the most pressing public health problems in the industrialized world. Twin, adoption, and family studies have shown that genetic factors play a significant role in the pathogenesis of obesity. Rare mutations in humans and model organisms have provided insights into the pathways involved in body weight regulation. To date, almost 200 human obesity cases have been ascribed to...

Learning objectives :
After viewing this presentation, participants will be able to discuss:
• The four adiposity phenotypes
• The five genetic hypotheses of obesity
• The evidence for single gene diseases
• The evidence for oligogenic disorders

Bibliographic references :
Pietilainen KH, Rissanen A, Kaprio J, Makimattila S, Hakkinen AM, Westerbacka J, Sutinen J, Vehkavaara S, Yki-Jarvinen H. Acquired obesity is associated with increased liver fat, intra-abdominal fat, and insulin resistance in young adult monozygotic twins. Am J Physiol Endocrinol Metab. 2005 Apr;288(4):E768-74. Epub 2004 Dec 7.

Bouchard C, Tremblay A, Despres JP, Nadeau A, Lupien PJ, Theriault G, Dussault J, Moorjani S, Pinault S, Fournier G. The response to long-term overfeeding in identical twins. N Engl J Med. 1990 May 24;322(21):1477-82.

Perusse L, Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, Walts B, Snyder EE, Bouchard C. The human obesity gene map: the 2004 update. Obes Res. 2005 Mar;13(3):381-490.

Human Obesity Gene Map Website



"Genetics of Type 2 Diabetes and the Metabolic Syndrome?"

Prof. Leif C Groop (biography)
English - 2005-04-14 - 27 minutes
(30 slides)

Summary :
Whereas diabetes can be diagnosed by measuring blood glucose, there are few laboratory tests for diagnosing diabetic subgroups like type 1 and type 2 diabetes (T2D). In general, everything which is not type 1 diabetes has been considered as type 2 diabetes. Therefore, T2D has accounted between 85-99% of all cases with diabetes around the world. This certainly represents an oversimplification of...

Learning objectives :
After viewing this presentation the participant will be able to discuss:

- Metabolic disturbances leading to type 2 diabetes
- Some important susceptibility genes for type 2 diabetes

Bibliographic references :
Charlotte Ling, Pernille Poulsen, Emma Carlsson, Martin Ridderstråle, Peter Almgren, Jørgen Wojtaszewski, Henning Beck-Nielsen, Leif Groop and Allan VaagMultiple environmental and genetic factors influence skeletal muscle PGC-1(alpha) and PGC-1ß gene expression in twins
J. Clin. Invest. 114:1518-1526 (2004).

Valeriya Lyssenko, Peter Almgren, Dragi Anevski, Roland Perfekt, Kaj Lahti, Michael Nissén, Bo Isomaa, Björn Forsen, Nils Homström, Carola Saloranta, Marja-Riitta Taskinen, Leif Groop, and Tiinamaija Tuomi for the Botnia Study Group Predictors of and Longitudinal Changes in Insulin Sensitivity and Secretion Preceding Onset of Type 2 Diabetes
Diabetes 54:166-174, 2005.

Vamsi K Mootha, Cecilia M Lindgren, Karl-Fredrik Eriksson, Aravind Subramanian, Smita Sihag, Joseph Lehar, Pere Puigserver, Emma Carlsson, Martin Ridderstråle, Esa Laurila, Nicholas Houstis, Mark J Daly, Nick Patterson, Jill P Mesirov, Todd R Golub, Pablo Tamayo, Bruce Spiegelman, Eric S Lander, Joel N Hirschhorn, David Altshuler & Leif C GroopPGC-1-(alpha) responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
Nature Genetics 34, 267 - 273 (2003).

David Altshuler, Joel N. Hirschhorn, Mia Klannemark, Cecilia M. Lindgren, Marie-Claude Vohl, James Nemesh, Charles R. Lane, Stephen F. Schaffner, Stacey Bolk, Carl Brewer, Tiinamaija Tuomi, Daniel Gaudet, Thomas J. Hudson, Mark Daly, Leif Groop & Eric S. LanderThe common PPAR(gamma) Pro12Ala polymorphism is associated with decreased risk of type 2 diabetesNature Genetics.2000;volume 26 no. 1 pp 76 - 80.


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