Hyperproinsulinemia

Hyperproinsulinemia is a disease where insulin is not sufficiently processed before secretion^[1] and immature forms of insulin make up the majority of circulating insulin immunoreactivity in both fasting and glucose-stimulated conditions (insulin immunoreactivity refers to all molecules detectable by an insulin antibody, i.e. insulin, proinsulin, and proinsulin-like material). The term is composed of hyper - high, proinsulin - immature insulin molecule, and -emia - blood condition.

Hyperproinsulinemia is more frequent in type 2 diabetes. It has been attributed to either a direct β-cells defect or an indirect effect of cell dysregulation under sustained elevated blood glucose (hyperglycemia).

Some alleles of insulin can cause hyperproinsulinemia (see table 2: monogenic forms of type 1 diabetes, INS (insulin). For a more detailed descriptions of the insulin gene variations leading to hyperproinsulinemia see NCBI's OMIM 176730

References

↑ Dhanvantari S, Shen FS, Adams T, et al. (September 2003). "Disruption of a receptor-mediated mechanism for intracellular sorting of proinsulin in familial hyperproinsulinemia". Mol. Endocrinol. 17 (9): 1856–67. doi:10.1210/me.2002-0380. PMID 12829804.

Disorders of translation and posttranslational modification

Translation

Initiation factor: Leukoencephalopathy with vanishing white matter

snRNP: Retinitis pigmentosa 33

Posttranslational modification

Protein folding	Alzheimer's disease Huntington's disease Creutzfeldt–Jakob disease chaperonins: 3-Methylglutaconic aciduria 5

Protein targeting	I-cell disease

Ubiquitin	E1: X-linked spinal muscular atrophy 2 E3: Johanson–Blizzard syndrome Von Hippel–Lindau disease 3-M syndrome Angelman syndrome Deubiquitinating enzyme: Machado–Joseph disease Aneurysmal bone cyst Multiple familial trichoepithelioma 1

SUMO	OFC10

Other	Multiple sulfatase deficiency Hyperproinsulinemia Ehlers–Danlos syndrome 6

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