Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0497406 (overweight)
 26,365 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maturity-onset diabetes of the young (MODY) is a rare form of juvenile diabetes mellitus that presents with hyperglycaemia in the absence of ketosis. We present three cases of MODY, all of whom had pedigrees with diabetics in multiple generations. All our patients presented in adolescence with evidence of insulin resistance. Two patients were relatively overweight. All three patients were readily controlled on diet alone. None had any clinical evidence of diabetic complications in early adulthood. Recently there has been a marked increase in our understanding of MODY. Genetic linkage and mutational analyses have identified three subtypes (MODY1, 2 and 3) that are all transmitted in an autosomal dominant fashion. The pathophysiology of the MODY subtypes is variable with both increased and decreased insulin levels being seen. A failure to recognise MODY will result in a lack of appropriate therapy and the potential for diabetic complications.
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PMID:Maturity-onset diabetes of the young (MODY): three case reports and new perspectives. 936 44

In Caucasians, maturity-onset diabetes of the young (MODY) is mostly caused by mutations in the hepatocyte nuclear factor (HNF)-1alpha (MODY3) and glucokinase (MODY2) genes. Most Japanese MODY patients, however, are not linked to known MODY genes. In this study, we examined the genetic and clinical characteristics of Chinese subjects with MODY. The study included 146 unrelated families fulfilling the minimum criteria for MODY: two consecutive generations of type II diabetes with at least one member diagnosed under the age of 25. We screened for mutations in the HNF-4alpha (MODY1), MODY2 and MODY3 genes by direct sequencing. Antibody to glutamic acid decarboxylase (GAD-Ab) was measured in subjects with MODY of unknown cause (MODYX). Insulin resistance index and other clinical data were compared in sex-, age- and duration-matched MODY3 and MODYX patients. In all, 13 families had MODY3 mutations and two had MODY2 mutations. No MODY1 mutation was found. Four of the 12 different MODY3 mutations were newly identified novel mutations (Q243E, A311D, P379R and P488fsdelC). In subjects with MODYX, 3% were GAD-Ab positive and 60% were overweight. Compared to MODY3 patients, MODYX patients had higher body mass index (P<0.02), higher insulin resistance index (P=0.001) and triglyceride level (P<0.02), lower HDL level (P=0.001) and more hypertension (P<0.05), but no significant difference in the prevalence of diabetic complications. In conclusion, MODY3 and MODY2 account for only 9 and 1%, respectively, of Chinese MODY. A majority of Chinese MODY patients are due to defects in unknown genes and appear to be characterized by insulin resistance.
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PMID:Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. 1565 5