Mitochondrial fusion proteins and human diseases

Michela Ranieri, Simona Brajkovic, Giulietta Riboldi, Dario Ronchi, Federica Rizzo, Nereo Bresolin, Stefania Corti, Giacomo P. Comi

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number293893
JournalNeurology Research International
Volume2013
DOIs
Publication statusPublished - 2013

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Mitochondrial Dynamics
Mitochondrial Proteins
Proteins
Autosomal Dominant Optic Atrophy
Dynamins
Charcot-Marie-Tooth Disease
Optic Atrophy
Mutation
GTP Phosphohydrolases
Mitochondrial Membranes
Mitochondrial DNA
Neurodegenerative Diseases
Organelles
Parkinson Disease
Alzheimer Disease
Mitochondria
Membranes
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Mitochondrial fusion proteins and human diseases. / Ranieri, Michela; Brajkovic, Simona; Riboldi, Giulietta; Ronchi, Dario; Rizzo, Federica; Bresolin, Nereo; Corti, Stefania; Comi, Giacomo P.

In: Neurology Research International, Vol. 2013, 293893, 2013.

Research output: Contribution to journalArticle

Ranieri, Michela ; Brajkovic, Simona ; Riboldi, Giulietta ; Ronchi, Dario ; Rizzo, Federica ; Bresolin, Nereo ; Corti, Stefania ; Comi, Giacomo P. / Mitochondrial fusion proteins and human diseases. In: Neurology Research International. 2013 ; Vol. 2013.
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