Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1987, Miyajima et al. first characterized an autosomal recessive, adult-onset neurodegenerative disorder resembling Parkinson's disease associated with near-absent circulating serum ceruloplasmin levels. Coined "familial apoceruloplasmin deficiency", they described a patient with a presenting triad of diabetes mellitus, retinal degeneration, and neurodegeneration with blepharospasm. Neuropathological evaluation revealed abundant iron deposition in selected neurons of the basal ganglia and substantia nigra with associated neuronal dropout and spongioform degeneration without evidence of reactive gliosis. Subsequently, mutations in the ceruloplasmin gene have been determined to result in the excessive iron accumulation seen in the pancreas, retina, and brain. Elevated serum ferritin suggests a systemic iron overload syndrome, yet affected patients had low transferrin saturation and a mild anemia. This new disease, "aceruloplasminemia", reveals a role for ceruloplasmin as an essential ferroxidase critical for iron homeostasis. This multicopper oxidase promotes efficient iron efflux such that individuals lacking ceruloplasmin develop a presumed oxidative injury secondary to iron accumulation and significant neuronal damage. Aceruloplasminemic mice provide a valuable model to further study the mechanisms by which ceruloplasmin regulates iron trafficking and the role of iron in oxidative injury. Despite the dependence of ceruloplasmin on copper for its function, aceruloplasminemia represents an iron storage disease and not a defect in copper metabolism. However, recent evidence in Saccharomyces cerevisiae indicates that Fet3, the yeast homologue of ceruloplasmin, functions as an essential cuprous oxidase. Further investigation into the mechanisms by which ceruloplasmin regulates iron and copper homeostasis will provide valuable insight into the pathogenesis of metallo-mediated diseases and elucidate mechanisms for transition metal (copper, iron) neuropathology.
 ...
PMID:Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. 1510 74

Three adult central bearded dragons (Pogona vitticeps) originating from a commercial breeding facility presented with clinical signs, including anorexia, dehydration, white multifocal lesions on the dorsal aspect of the tongue, blepharospasm, and weight loss. In 1 of 3 lizards, a marked regenerative anemia was noted, and all 3 bearded dragons had erythrocytic intracytoplasmic inclusion bodies. Nine bearded dragons housed in contact also had identical, but fewer intraerythrocytic inclusions. Inclusion bodies examined by electron microscopy had particles consistent with iridoviruses. Attempts to culture the virus were unsuccessful; however, amplification and sequencing of regions of the viral DNA polymerase by polymerase chain reaction confirmed the presence of an iridovirus. One of the bearded dragons died, while the 2 others showing clinical signs were euthanized. The remaining 9 infected bearded dragons of the teaching colony were also euthanized. Postmortem examination revealed a moderate, multifocal, lymphoplasmacytic or mononuclear adenitis of the tongue in the 3 bearded dragons, and a lymphohistiocytic hepatitis with bacterial granulomas in 2 lizards.
 ...
PMID:Intraerythrocytic iridovirus in central bearded dragons (Pogona vitticeps). 2485 23