Likewise, failures in the expression of HNF6, HNF1b
or Foxf1 result in alterations in the development of the gallbladder and the common bile duct.
Other genes associated with MODY are infrequently detected: HNF1B
, IPF, NEUROD, PDX1, KLF11, CEL, PAX4, BLK, ABCC8 and KCNJ11 (3).
Una minoria de estos pacientes presentan otras mutaciones en los genes de factores de trascripcion como HNF1B
o en el gen INS.
PNDM is a genetically heterogeneous disorder due to mutations in 23 different genes described to date: KCNJ11, ABCC8, FOXP3, GCK, PDX1, pancreas-specific transcription factor 1A (PTF1A), EIF2AK3, SLC2A2, GATA6, GATA4, SLC19A2, WFS1, NEUROD1, NEUROG3, RFX6, LRBA, NKX2-2, MNX1, IER3IP1, INS, S T A T 3 , GLIS3 and HNF1B
* MODY 5 [caused by mutations in hepatocyte nuclear factor 1 homeobox B (HNF1B
)] can adversely affect development of cells in the uterus, kidneys, and kidney tracts, causing diabetes, renal cysts, and gout.
Although genetic testing for UMOD, REN, and HNF1B
mutations is well established, MUC1 genetic testing remains challenging .
However, so far the only example of genetic predisposition to GDM is represented by maturity onset diabetes of the young (MODY), a clinically heterogeneous autosomal dominant monogenic disease, accounting for up to 5% of diabetes and due to mutations in different genes such as HNF4A, GCK, HNF1A, IPF1, HNF1B
, and NEUROD1.
Dosage analysis of GCK, HNF4A, and HNF1B
by MLPA using MRC-Holland kit P241-D1 was performed.
The Scorecard panel initially examines the gene expression of undifferentiated and EB differentiated iPSCs for certain pluripotent (CXCL5, Nanog, Pouf51, Sox2, etc.), ectodermal (DRD4, PAX3, Sox1, Wnt1, etc.), mesodermal (HAND1, ESM1, BMP2, ODAM, etc.), and endodermal (FoxA2, GATA4, HNF1B
, Sox17, etc.) markers.
Overexpression of miR-802 in mice causes impaired glucose tolerance and attenuates insulin sensitivity by suppressing its target gene HNF1 Homeobox B (Hnf1b
Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1b
Gloyn, "Species-specific differences in the expression of the HNF1A, HNF1B
and HNF4A genes," PLoS ONE, vol.