Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis - PubMed (original) (raw)
Review
. 1998 May;67(5 Suppl):972S-977S.
doi: 10.1093/ajcn/67.5.972S.
Affiliations
- PMID: 9587138
- DOI: 10.1093/ajcn/67.5.972S
Review
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis
Z L Harris et al. Am J Clin Nutr. 1998 May.
Abstract
Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia associated with specific inherited mutations in the ceruloplasmin gene. Clinical and pathologic studies in patients with aceruloplasminemia revealed a marked accumulation of iron in affected parenchymal tissues, a finding consistent with early work identifying ceruloplasmin as a ferroxidase and with recent findings showing an essential role for a homologous copper oxidase in iron metabolism in yeast. The presence of neurologic symptoms in aceruloplasminemia is unique among the known inherited and acquired disorders of iron metabolism; recent studies revealed an essential role for astrocyte-specific expression of ceruloplasmin in iron metabolism and neuronal survival in the central nervous system. Recognition of aceruloplasminemia provides new insights into the genetic and environmental determinants of copper metabolism and has important implications for our understanding of the role of copper in human neurodegenerative diseases.
Similar articles
- Aceruloplasminemia.
Kono S. Kono S. Curr Drug Targets. 2012 Aug;13(9):1190-9. doi: 10.2174/138945012802002320. Curr Drug Targets. 2012. PMID: 22515740 Review. - Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.
Xu X, Pin S, Gathinji M, Fuchs R, Harris ZL. Xu X, et al. Ann N Y Acad Sci. 2004 Mar;1012:299-305. doi: 10.1196/annals.1306.024. Ann N Y Acad Sci. 2004. PMID: 15105274 Review. - Ceruloplasmin metabolism and function.
Hellman NE, Gitlin JD. Hellman NE, et al. Annu Rev Nutr. 2002;22:439-58. doi: 10.1146/annurev.nutr.22.012502.114457. Epub 2002 Apr 4. Annu Rev Nutr. 2002. PMID: 12055353 Review. - Aceruloplasminemia: an update.
Kono S. Kono S. Int Rev Neurobiol. 2013;110:125-51. doi: 10.1016/B978-0-12-410502-7.00007-7. Int Rev Neurobiol. 2013. PMID: 24209437 Review. - [Aceruloplasminemia].
Miyajima H. Miyajima H. Rinsho Shinkeigaku. 2000 Dec;40(12):1290-2. Rinsho Shinkeigaku. 2000. PMID: 11464482 Review. Japanese.
Cited by
- Iron-inhibited autophagy via transcription factor ZFP27 in Parkinson's disease.
Wang Y, Wen Q, Chen R, Gan Z, Huang X, Wang P, Cao X, Zhao N, Yang Z, Yan J. Wang Y, et al. J Cell Mol Med. 2023 Nov;27(22):3614-3627. doi: 10.1111/jcmm.17946. Epub 2023 Sep 5. J Cell Mol Med. 2023. PMID: 37668106 Free PMC article. - Brain Iron Metabolism, Redox Balance and Neurological Diseases.
Gao G, You L, Zhang J, Chang YZ, Yu P. Gao G, et al. Antioxidants (Basel). 2023 Jun 16;12(6):1289. doi: 10.3390/antiox12061289. Antioxidants (Basel). 2023. PMID: 37372019 Free PMC article. Review. - Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload.
Touarsa F, Ali Mohamed D, Onka B, Rostoum S, Ech-Cherif El Kettani N, Fikri M, Jiddane M. Touarsa F, et al. BJR Case Rep. 2022 Sep 12;8(5):20220035. doi: 10.1259/bjrcr.20220035. eCollection 2022 Sep 12. BJR Case Rep. 2022. PMID: 36211608 Free PMC article. - Iron in Alzheimer's Disease: From Physiology to Disease Disabilities.
Pal A, Cerchiaro G, Rani I, Ventriglia M, Rongioletti M, Longobardi A, Squitti R. Pal A, et al. Biomolecules. 2022 Sep 6;12(9):1248. doi: 10.3390/biom12091248. Biomolecules. 2022. PMID: 36139084 Free PMC article. Review. - Ceruloplasmin deletion in myelinating glial cells induces myelin disruption and oxidative stress in the central and peripheral nervous systems.
Santiago González DA, Cheli VT, Rosenblum SL, Denaroso G, Paez PM. Santiago González DA, et al. Redox Biol. 2021 Oct;46:102118. doi: 10.1016/j.redox.2021.102118. Epub 2021 Aug 27. Redox Biol. 2021. PMID: 34474395 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical