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Mitochondrial Fusion Proteins and Human Diseases
Joint Authors
Ranieri, Michela
Bresolin, Nereo
Corti, Stefania
Ronchi, Dario
Comi, Giacomo P.
Riboldi, Giulietta
Brajkovic, Simona
Rizzo, Federica
Source
Neurology Research International
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-05-27
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Mitochondria are highly dynamic, complex organelles that continuously alter their shape, ranging between two opposite processes, fission and fusion, in response to several stimuli and the metabolic demands of the cell.
Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases.
The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane.
An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy.
While these disorders can still be considered rare, defective mitochondrial dynamics seem to play a significant role in the molecular and cellular pathogenesis of more common neurodegenerative diseases, for example, Alzheimer’s and Parkinson’s diseases.
This review provides an overview of the basic molecular mechanisms involved in mitochondrial fusion and focuses on the alteration in mitochondrial DNA amount resulting from impairment of mitochondrial dynamics.
We also review the literature describing the main disorders associated with the disruption of mitochondrial fusion.
American Psychological Association (APA)
Ranieri, Michela& Brajkovic, Simona& Riboldi, Giulietta& Ronchi, Dario& Rizzo, Federica& Bresolin, Nereo…[et al.]. 2013. Mitochondrial Fusion Proteins and Human Diseases. Neurology Research International،Vol. 2013, no. 2013, pp.1-11.
https://search.emarefa.net/detail/BIM-461088
Modern Language Association (MLA)
Ranieri, Michela…[et al.]. Mitochondrial Fusion Proteins and Human Diseases. Neurology Research International No. 2013 (2013), pp.1-11.
https://search.emarefa.net/detail/BIM-461088
American Medical Association (AMA)
Ranieri, Michela& Brajkovic, Simona& Riboldi, Giulietta& Ronchi, Dario& Rizzo, Federica& Bresolin, Nereo…[et al.]. Mitochondrial Fusion Proteins and Human Diseases. Neurology Research International. 2013. Vol. 2013, no. 2013, pp.1-11.
https://search.emarefa.net/detail/BIM-461088
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-461088