General Information:

Id: 6,649 (click here to show other Interactions for entry)
Diseases: Diabetes mellitus, type II - [OMIM]
Friedreich ataxia 1 - [OMIM]
Insulin resistance
Mus musculus
article
Reference: Puccio H et al.(2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits Nat. Genet. 27: 181-186 [PMID: 11175786]

Interaction Information:

Comment Through a conditional gene-targeting approach, a striated muscle frataxin-deficient line and a neuron/cardiac muscle frataxin-deficient line were generated, which together reproduce important progressive pathophysiological and biochemical features of the human disease: cardiac hypertrophy without skeletal muscle involvement, large sensory neuron dysfunction without alteration of the small sensory and motor neurons, and deficient activities of complexes I-III of the respiratory chain and of the aconitases.The models demonstrate time-dependent intramitochondrial iron accumulation in a frataxin-deficient mammal, which occurs after onset of the pathology and after inactivation of the Fe-S-dependent enzymes.
Formal Description
Interaction-ID: 64334

gene/protein

FXN

affects_quantity of

drug/chemical compound

Iron

in mitochondria