Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011860 (type 2 diabetes)
 57,723 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal diabetes mellitus (NDM) is defined as hyperglycaemia occurring in the first few weeks of life. It can be either transient (TNDM) or permanent (PNDM), and until recently, little was known about the condition. A cohort of 30 infants with a history of TNDM has been studied, and findings have suggested that NDM does not have the same aetiology as classical type 1 childhood diabetes. Uniparental isodisomy of chromosome 6 and an unbalanced duplication of paternal chromosome 6 have both been described as a genetic basis for TNDM in over 75% of the cases. In addition, cerebellar hypoplasia and Walcott-Rallison syndrome have been associated with PNDM, suggesting an autosomal recessive inheritance pattern; furthermore, a mutation in the gene insulin promoter factor 1 has been identified as a cause of pancreatic agenesis in PNDM. In the long term, TNDM may reduce beta cell functional capacity and present a predisposition to type 2 diabetes mellitus.
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PMID:Neonatal diabetes: new insights into aetiology and implications. 1089 36

Transient (TNDM) and permanent neonatal diabetes mellitus (PNDM) are rare conditions occurring in one in 400,000-500,000 live births. In TNDM, growth-retarded infants develop diabetes in the first few weeks of life only to go into remission in a few months with later relapse as permanent type 2 diabetes, often around the time of adolescence. We believe that pancreatic dysfunction in this condition is maintained throughout life with relapse initiated at times of metabolic stress such as puberty or pregnancy. The mechanisms involved in this rare condition may inform on fetal pancreatic development, islet cell physiology and predisposition to type 2 diabetes. In PNDM, insulin secretory failure occurs in the early postnatal period. A number of conditions are associated with PNDM, some of which have been elucidated at the molecular level. Insulin therapy is difficult to manage in the neonatal period, and in experienced hands, the insulin pump may provide a valuable tool to administer insulin.
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PMID:Neonatal and very-early-onset diabetes mellitus. 1501 76

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.
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PMID:Can geneticists help clinicians to understand and treat non-autoimmune diabetes? 1901 May 62