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2014 ; 41
(11
): 7053-62
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Mitochondrial dynamic changes in health and genetic diseases
#MMPMID25103020
Chen L
; Winger AJ
; Knowlton AA
Mol Biol Rep
2014[Nov]; 41
(11
): 7053-62
PMID25103020
show ga
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.