ArticleDisease models & mechanisms2012
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Article in Disease models & mechanisms, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).Annals of neurology · 2021Trial
- Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich's ataxia mouse model.iScience · 2023Article
- Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia.Frontiers in neuroscience · 2022Article
- Friedreich Ataxia: Multidisciplinary Clinical Care.Journal of multidisciplinary healthcare · 2021Review
- Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.Cell death & disease · 2020Article
- Characterization of human frataxin missense variants in cancer tissues.Human mutation · 2019Article
- The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.Frontiers in neuroscience · 2019Review
- Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Impact ofInternational journal of molecular sciences · 2018Review
- Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.Disease models & mechanisms · 2018Article
- Acute loss of iron-sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells.The Journal of biological chemistry · 2018Article
- The role of oxidative stress in Friedreich's ataxia.FEBS letters · 2018Review
- Review
- Friedreich Ataxia: current status and future prospects.Cerebellum & ataxias · 2017Review
- Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.Gene therapy · 2016Article
- Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.World journal of stem cells · 2015Review
- Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Mitochondrion · 2015Review
- A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.Disease models & mechanisms · 2015Article
- Iron homeostasis in peripheral nervous system, still a black box?Antioxidants & redox signaling · 2014Review
- Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.Nature medicine · 2014Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich's ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused by impaired expression of the FXN gene coding for the mitochondrial protein frataxin. During the past ten years, the development of mouse models of FRDA has allowed better understanding of the pathophysiology of the disease. Among the mouse models of FRDA, the liver conditional mouse model pointed to a tumor suppressor activity of frataxin leading to the hypothesis that individuals with FRDA might be predisposed to cancer. In the present work, we investigated the presence and the incidence of neoplasia in the largest FRDA patient cohorts from the USA, Australia and Europe. As no predisposition to cancer could be observed in both cohorts, we revisited the phenotype of the liver conditional mouse model. Our results show that frataxin-deficient livers developed early mitochondriopathy, iron-sulfur cluster deficits and intramitochondrial dense deposits, classical hallmarks observed in frataxin-deficient tissues and cells. With age, a minority of mice developed structures similar to the ones previously associated with tumor formation. However, these peripheral structures contained dying, frataxin-deficient hepatocytes, whereas the inner liver structure was composed of a pool of frataxin-positive cells, due to inefficient Cre-mediated recombination of the Fxn gene, that contributed to regeneration of a functional liver. Together, our data demonstrate that frataxin deficiency and tumorigenesis are not associated.
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