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 Repjournal_title
Molecular biology reportsauthors
Chen L,Winger AJ,Knowlton AAdoi
10.1007/s11033-014-3663-ysubject
Has Abstractpub_date
2014-11-01 00:00:00pages
7053-62issue
11eissn
0301-4851issn
1573-4978journal_volume
41pub_type
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