Mitochondrial dynamic changes in health and genetic diseases.

Abstract

Mitochondria are highly specialized in function, but mitochondrial and, therefore, cellular integrity is maintained through their dynamic nature. Through the frequent processes of fusion and fission, mitochondria continuously change in shape and adjust function to meet cellular requirements. Abnormalities in fusion/fission dynamics generate cellular dysfunction that may lead to diseases. Mutations in the genes encoding mitochondrial fusion/fission proteins, such as MFN2 and OPA1, have been associated with an increasing number of genetic disorders, including Charcot-Marie-Tooth disease type 2A (CMT2A) and autosomal dominant optic atrophy. In this review, we address the mitochondrial dynamic changes in several important genetic diseases, which will bring the new insight of clinical relevance of mitochondrial genetics.

• Authors: Le Chen, Allison J Winger, Anne A Knowlton
• Journal: Molecular biology reports (Mol Biol Rep) Vol. 41 Issue 11 Pg. 7053-62 (Nov 2014) ISSN: 1573-4978 [Electronic] Netherlands
• PMID: 25103020 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S., Review)

Chemical References

• Mitochondrial Proteins
• GTP Phosphohydrolases
• MFN2 protein, human
• OPA1 protein, human

Topics

• Apoptosis (physiology)
• GTP Phosphohydrolases (metabolism)
• Genetic Diseases, Inborn (physiopathology)
• Humans
• Mitochondrial Diseases (physiopathology)
• Mitochondrial Dynamics (physiology)
• Mitochondrial Proteins (metabolism)
• Oxidative Stress (physiology)