PMID- 19010562
OWN - NLM
STAT- MEDLINE
DCOM- 20090420
LR  - 20081208
IS  - 1872-8227 (Electronic)
IS  - 0168-8227 (Linking)
VI  - 82 Suppl 2
DP  - 2008 Dec 15
TI  - Can geneticists help clinicians to understand and treat non-autoimmune diabetes?
PG  - S83-93
LID - 10.1016/j.diabres.2008.09.020 [doi]
AB  - Approximately, a few percent of the European population suffers from diabetes. 
      Scientific evidence showed that specific treatment of this disease could be 
      successfully tailored on the basis of proper differential diagnosis that in many 
      instances also requires genetic testing. This may be helpful in achieving 
      metabolic control of the disease, increasing quality of life and potentially 
      reducing the prevalence of chronic complications. Identification of the molecular 
      background of these specific forms of diabetes gives new insight into the 
      underlying aetiology. This knowledge helps to optimize treatment in specific 
      clinical situations. Monogenic diabetes is an excellent example of a clinical 
      area where new advances in molecular genetics can aid patient care and treatment 
      decisions. The most frequently diagnosed forms of monogenic diabetes are MODY, 
      mitochondrial diabetes, permanent and transient neonatal diabetes (PNDM and 
      TNDM). These rare forms probably constitute at least a few percent of all 
      diabetes cases seen in diabetic clinics. The proper differential diagnosis also 
      helps to predict the progress of diabetes in affected individuals and defines the 
      prognosis in the family. Recently, several genome wide association studies added 
      new facts to the knowledge on complex forms of type 2 diabetes mellitus (T2DM) as 
      the scientists substantially extended the short list of previously identified 
      genes. Most newly identified variants influence beta-cell insulin secretion, 
      while a few modulate peripheral insulin action. It is not clear whether in the 
      future the genetic testing of frequent polymorphisms will influence the treatment 
      of T2DM. In this review, we present the clinical application of genetic testing 
      in non-autoimmune diabetes, mostly monogenic forms of disease.
FAU - Malecki, Maciej T
AU  - Malecki MT
AD  - Department of Metabolic Diseases, Jagiellonian University, Medical College, 15 
      Kopernika Street, 31-501 Krakow, Poland. malecki_malecki@yahoo.com
FAU - Mlynarski, Wojciech
AU  - Mlynarski W
FAU - Skupien, Jan
AU  - Skupien J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20081117
PL  - Ireland
TA  - Diabetes Res Clin Pract
JT  - Diabetes research and clinical practice
JID - 8508335
RN  - 0 (Sulfonylurea Compounds)
SB  - IM
MH  - Diabetes Mellitus, Type 2/*drug therapy/*genetics
MH  - Humans
MH  - Pharmacogenetics/*methods
MH  - Sulfonylurea Compounds/therapeutic use
EDAT- 2008/11/18 09:00
MHDA- 2009/04/21 09:00
CRDT- 2008/11/18 09:00
PHST- 2008/11/18 09:00 [pubmed]
PHST- 2009/04/21 09:00 [medline]
PHST- 2008/11/18 09:00 [entrez]
AID - S0168-8227(08)00449-X [pii]
AID - 10.1016/j.diabres.2008.09.020 [doi]
PST - ppublish
SO  - Diabetes Res Clin Pract. 2008 Dec 15;82 Suppl 2:S83-93. doi: 
      10.1016/j.diabres.2008.09.020. Epub 2008 Nov 17.