ReviewJournal of medical genetics2005
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
Review in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Variants influencing age at diagnosis of HNF1A-MODY.Molecular medicine (Cambridge, Mass.) · 2022Article
- Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles.Biochemistry and biophysics reports · 2022Article
- Solution Ensemble of the C-Terminal Domain from the Transcription Factor Pdx1 Resembles an Excluded Volume Polymer.The journal of physical chemistry. B · 2019Article
- Understanding childhood diabetes mellitus: new pathophysiological aspects.Journal of inherited metabolic disease · 2018Review
- Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.Journal of clinical research in pediatric endocrinology · 2017Article
- Apoptosis in pancreatic β-islet cells in Type 2 diabetes.Bosnian journal of basic medical sciences · 2016Review
- Effect of early life stress on pancreatic isolated islets' insulin secretion in young adult male rats subjected to chronic stress.Endocrine · 2015Article
- A standardized method for in vivo mouse pancreas imaging and semiquantitative β cell mass measurement by dual isotope SPECT.Molecular imaging and biology · 2015Article
- Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.Molecular genetics and metabolism · 2014Article
- Two novel mutations identified in familial cases with Donohue syndrome.Molecular genetics & genomic medicine · 2014Article
- Monogenic models: what have the single gene disorders taught us?Current diabetes reports · 2012Review
- Saturation of the human phenome.Current genomics · 2010Article
- LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype.Endocrine · 2009Article
- Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.Neurogenetics · 2006Article
- Glucose-sensing mechanisms in pancreatic beta-cells.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2005Review
Corrections and comments
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Authors and funding
2 authors.
Funding
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Abstract
Type 2 diabetes mellitus is caused by a combination of insulin resistance and beta cell failure. The polygenic nature of type 2 diabetes has made it difficult to study. Although many candidate genes for this condition have been suggested, in most cases association studies have been equivocal. Monogenic forms of diabetes have now been studied extensively, and the genetic basis of many of these syndromes has been elucidated, leading to greater understanding of the functions of the genes involved. Common variations in the genes causing monogenic disorders have been associated with susceptibility to type 2 diabetes in several populations and explain some of the linkage seen in genome-wide scans. Monogenic disorders are also helpful in understanding both normal and disordered glucose and insulin metabolism. Three main areas of defect contribute to diabetes: defects in insulin signalling leading to insulin resistance; defects of insulin secretion leading to hypoinsulinaemia; and apoptosis leading to decreased beta cell mass. These three pathological pathways are reviewed, focusing on rare genetic syndromes which have diabetes as a prominent feature. Apoptosis seems to be a final common pathway in both type 1 and type 2 diabetes. Study of rare forms of diabetes may help ion determining new therapeutic targets to preserve or increase beta cell mass and function.
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