Contrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1 and -1 Mutations
نویسندگان
چکیده
OBJECTIVE — Mutations in the highly homologous transcription factors hepatocyte nuclear factor (HNF)-1 and -1 cause maturity-onset diabetes of the young types 3 and 5, respectively. Diabetes due to HNF-1 mutations is well characterized. However, physiological assessment of the HNF-1 phenotype is limited. We aimed to test the hypothesis that the diabetes phenotype due to HNF-1 mutations is similar to that in HNF-1 .
منابع مشابه
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, all resulting in early-onset type 2 diabetes. We assessed the relative contribution of these genes to early-onset type 2 diabetes using linkage and sequencing analysis in a...
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