Mody 4

MODY is the acronym for "Maturity-onset Diabetes of the Young" and describes a group of autosomal-dominantly inherited, genetically heterogeneous, not always insulin-dependent forms of diabetes. The MODY forms of diabetes are caused by various disorders of beta cell function in the pancreas. The body weight of MODY patients is usually normal. Neither are any of the autoimmune phenomena characteristic of type 1 diabetes observed. Rare are other associated organ dysplasias (eyes, pancreas, intestine).

MODY-4 affects about 1% of MODY cases,

MODY 4 is triggered by monogenic, autosomal dominant mutations in the PDX1 gene (MODY type 4). The PDX1 gene is located on the long arm of chromosome 12 (12q24.31). The PDX1 gene encodes the transcription factor Pdx1 (older name: IPF1: insulin promoter factor 1), which plays a crucial role in the development and function of pancreas and pancreatic beta cells. Mutations in the PDX1 gene result in pathologically decreased insulin production.

MODY 4 is characterized by an overall mild disease course. The presence of two mutations in the PDX1 gene can lead to pancreatic agenesis (-aplasia) with neonatal diabetes.

Untreated, MODY 4 patients develop almost all late complications as described for type 2 diabetics. MODY 4 patients are usually well adjusted over a longer period of time with dietary measures or oral antidiabetics without insulin therapy.

Indication for the detection of MODY 4 gene mutation:

• Manifestation age in early adolescence
• no GAD and/or IA2 antibodies (exclusion of type 1 diabetes)
• Positive family history, autosomal dominant inheritance
• Diabetes without obesity
• Progressive hyperglycaemia in old age
• No insulin resistance
• Pancreatic aplasia with neonatal diabetes