Early adulthood


Rare Early adulthood 10-20% in Heterogenous Europe zipper superfamily and HNF-4a, a nuclear orphane receptor (18). These transcription factors are expressed in the liver, pancreatic P-cells, kidney and reproductive organs and are central factors in the transcriptional network of these cells (Fig. 1). There is an integrative regulation of these factors in embryogenesis and also in adult tissues. Next to the insulin gene expression itself these transcription factors regulate genes that have key functions in glucose transport or metabolism in pancreatic P-cells (19,20).

The direct association of the genetic mutations and the MODY phenotype have been examined and proven in certain transgenic mouse models. For example mice with a

TABLE 2 Criteria for MODY Diagnosis

Strict criteria Considerations

Mild, non-ketotic diabetes Patient might not present with symptoms

No auto-antibodies In rare cases low levels of antibodies can be detected

Lean BMI< 25 Ethical consideration; increased BMI possible

Non-insulin dependent diabetes within 5 years after Parameters show-up in combination or only one parameter diagnosis; significant circulating C-peptide Early-onset usually <25 years Onset can occur 10-60 years (30); >35 years should be accepted

(mild symptoms)

Heredity over three generations Undiagnosed family members, due to mild diabetes; patients' family history unknown/unclear; rare spontaneous mutations, therefore no family history

Source: From Ref. 7.

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