RGD Reference Report - Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. - Rat Genome Database
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Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass.

Authors: Ristow, M  Mulder, H  Pomplun, D  Schulz, TJ  Muller-Schmehl, K  Krause, A  Fex, M  Puccio, H  Muller, J  Isken, F  Spranger, J  Muller-Wieland, D  Magnuson, MA  Mohlig, M  Koenig, M  Pfeiffer, AF 
Citation: Ristow M, etal., J Clin Invest. 2003 Aug;112(4):527-34.
RGD ID: 2307048
Pubmed: PMID:12925693   (View Abstract at PubMed)
PMCID: PMC171391   (View Article at PubMed Central)
DOI: DOI:10.1172/JCI18107   (Journal Full-text)

Diabetes is caused by an absolute (type 1) or relative (type 2) deficiency of insulin-producing beta cells. We have disrupted expression of the mitochondrial protein frataxin selectively in pancreatic beta cells. Mice were born healthy but subsequently developed impaired glucose tolerance progressing to overt diabetes mellitus. These observations were explained by impairment of insulin secretion due to a loss of beta cell mass in knockout animals. This phenotype was preceded by elevated levels of reactive oxygen species in knockout islets, an increased frequency of apoptosis, and a decreased number of proliferating beta cells. Hence, disruption of the frataxin gene in pancreatic beta cells causes diabetes following cellular growth arrest and apoptosis, paralleled by an increase in reactive oxygen species in islets. These observations might provide insight into the deterioration of beta cell function observed in different subtypes of diabetes in humans.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FXNHumandiabetes mellitus  ISOFxn (Mus musculus)DNA:deletion:exon (mouse)RGD 
FxnMousediabetes mellitus  IAGP DNA:deletion:exon (mouse)RGD 
FxnRatdiabetes mellitus  ISOFxn (Mus musculus)DNA:deletion:exon (mouse)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fxn  (frataxin)

Genes (Mus musculus)
Fxn  (frataxin)

Genes (Homo sapiens)
FXN  (frataxin)


Additional Information