Maturity Onset Diabetes of the Young MODY

MODY are a group of monogenic disorders inherited in an autosomal dominant pattern. MODY is characterized by early onset (usually before the age of 25 years) of T2D ft cell dysfunction and there being a family history (at least two generations) of early onset diabetes. The defect is in insulin secretion due to mutations in the glucokinase and ft cell transcription factor genes (Table 2). Hepatocyte nuclear factors (HNF) 1a, 1ft, and 4a, insulin promoter factor (IPF1), and neurogenic differentiation^ (NEUROD1) play an important role in the normal development and function of the ft cells of the pancreas. In the UK mutations in HNF1a is the commonest cause of MODY accounting for 63% of cases, followed by mutations in the glucokinase gene (20% of cases). The clinical presentation and progression of diabetes is

Table 2 Maturity onset diabetes of the young

MODY Gene Chromosome MODY

subgroup frequency

Table 2 Maturity onset diabetes of the young

MODY Gene Chromosome MODY

subgroup frequency

MODY1

HNF4a

20q

Rare

MODY2

GCK

7p

10-65%

MODY3

HNFIa

12q

20-75%

MODY4

IPF1

13q

Rare

MODY5

HNF1ß

17q

Rare

MODY6

NEUROD1

2q

Rare

different among patients with mutations of gluco-kinase, HNF1a, and HNF1ft. Subjects with gluco-kinase mutations are frequently asymptomatic but can be identified when diagnosed with gestational diabetes or with a milder form of diabetes, which is frequently treated with diet alone and is not associated with the complications of diabetes. In contrast subjects with HNF1a mutations are more like lean patients with T2D with susceptibility to microvascular complications and progressive loss of ft cell function exacerbated by increasing body mass index. In comparison to patients with T2D, subjects with HNF1a mutations are very sensitive to sulfonylurea treatment as might be predicted from the genetic defect. Finally, patients with HNF1ft mutations in addition to T2D have renal cysts that may lead to renal failure and hence such patients are more frequently found in the renal clinic.

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