Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glu...

BACKGROUND Maturity-onset diabetes of the young (MODY) is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. METHODS To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, ...

The diagnosis of diabetes subtypes in a busy clinic is usually based on the age at onset, phenotype and biochemical diagnostic criteria. Not surprisingly, the focus is predominantly on diagnosing type 1 and type 2 diabetes. More challenging for the physician is to think of monogenic diabetes, which results from gene mutations that reduce beta cell function. Often misdiagnosed as type 1 or type ...

Multiplex diabetic families may be caused by mutations in genes of hepatocyte nuclear factors (matur i ty-onset diabetes of the young [MODY]1, -3, and -5), glucokinase (MODY2), insulin promoter factor-1 (MODY4), NeuroD1 (MODY6), mitochondrion ND1 and tRNA, and some other unknown genetic mutations. Recent studies showed that mutations of MODY are not common causes of diabetes in Chinese diabetic...

Mild hyperglycaemia is a common finding during minor illness in children. The differential diagnosis includes maturity onset diabetes of the young (MODY), which can be a difficult diagnosis to make clinically. As most genes resulting in MODY have been identified, it is possible to make a firm diagnosis using mutation detection. A case is reported of a 4 year old girl in whom a diagnosis of MODY...

Background Maturity-onset diabetes of the young (MODY) represents about 3-5% of cases of diabetes mellitus (DM). Searching for mutations can be performed either by Sanger sequencing or Multiplex Ligation-dependent Probe Amplification (MLPA) technique. MLPA is a powerful molecular tool that identifies large genetic rearrangements such as deletions and insertions, even though these kinds of mutat...

Maturity-onset diabetes of the young (MODY) type 2 is caused by heterozygous inactivating mutations in gene encoding glucokinase (GCK), a pivotal enzyme for glucose homeostasis. In pancreas GCK regulates insulin secretion, while liver it promotes utilization and storage. We showed that silencing DrosophilaGCK orthologs Hex-A Hex-C results MODY-2-like hyperglycemia. Targeted knock-down revealed ...