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.

journal_name

Mol Biol Rep

authors

Chen L,Winger AJ,Knowlton AA

doi

10.1007/s11033-014-3663-y

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

7053-62

issue

11

eissn

0301-4851

issn

1573-4978

journal_volume

41

pub_type

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