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Pharmacogénétique et médecine personnalisée du diabète
 
What are the effects of mutations in MC4R on Obesity bariatric surgery outcome ?
EEEEEEEEEEEEEEEEEE EEEEEEEEEE Obesity Surgery success rate is diminished by MC4R mutations
6th of October 2011
[object Object],deletion duplication Dosage normal Walters, Nature,  Jacquemont, Nature, 2011 ,[object Object]
5% of diabetic cases have a monogenic cause Monogenic T2D is due to primary  -cell dysfunction…
Role of the ATP-sensitive  potassium channel subunits  Kir6.2  and  ABCC8/SUR1  in insulin secretion K ATP  channels close Membrane depolarization Ca 2+  influx Insulin secretion ATP/ADP Glucose entering  Gloyn et al., N Eng J Med, 2004 Babenko  et al., N Eng J Med, 2006 SUR1 = sulfonylurea receptor
Most KCNJ11/ABCC8 NDM patients can be switched from insulin to oral anti diabetic drug sulfonylurea   NDM patients newly treated  with glibenclamide n=28 Success :  n =27 96.4% Failure  n = 1 3.6% Glibenclamide alone  n=24 89% Insulin + glibenclamide n = 3 11%
 
 
>95% of Type 2 Diabetes cases are polygenic And interaction   Genes  Environment Environment Gene 4 Gene 3 Gene 5 Gene 13 Gene 9 Gene 12 Gene 11 Gene 8 Gene 7 Gene 10 Gene 6 Gene 2 Gene 14 Gene 1 Gene n Epistatic interaction between genes? Low penetrance Type 2 Diabetes
“ The optimal management of type 2 diabetes should take into consideration the heterogeneity of the disorder which requires individualized therapies tailored to patient's individual needs” “

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RRC 2011 : Pharmacogénétique et médecine personnalisée du diabète

  • 1. Pharmacogénétique et médecine personnalisée du diabète
  • 2.  
  • 3. What are the effects of mutations in MC4R on Obesity bariatric surgery outcome ?
  • 4. EEEEEEEEEEEEEEEEEE EEEEEEEEEE Obesity Surgery success rate is diminished by MC4R mutations
  • 6.
  • 7. 5% of diabetic cases have a monogenic cause Monogenic T2D is due to primary  -cell dysfunction…
  • 8. Role of the ATP-sensitive potassium channel subunits Kir6.2 and ABCC8/SUR1 in insulin secretion K ATP channels close Membrane depolarization Ca 2+ influx Insulin secretion ATP/ADP Glucose entering Gloyn et al., N Eng J Med, 2004 Babenko et al., N Eng J Med, 2006 SUR1 = sulfonylurea receptor
  • 9. Most KCNJ11/ABCC8 NDM patients can be switched from insulin to oral anti diabetic drug sulfonylurea NDM patients newly treated with glibenclamide n=28 Success : n =27 96.4% Failure n = 1 3.6% Glibenclamide alone n=24 89% Insulin + glibenclamide n = 3 11%
  • 10.  
  • 11.  
  • 12. >95% of Type 2 Diabetes cases are polygenic And interaction Genes Environment Environment Gene 4 Gene 3 Gene 5 Gene 13 Gene 9 Gene 12 Gene 11 Gene 8 Gene 7 Gene 10 Gene 6 Gene 2 Gene 14 Gene 1 Gene n Epistatic interaction between genes? Low penetrance Type 2 Diabetes
  • 13. “ The optimal management of type 2 diabetes should take into consideration the heterogeneity of the disorder which requires individualized therapies tailored to patient's individual needs” “

Editor's Notes

  1. Environmental compenent - sedentary lifestyle