Journal
NEURON
Volume 84, Issue 6, Pages 1126-1142Publisher
CELL PRESS
DOI: 10.1016/j.neuron.2014.11.022
Keywords
-
Categories
Funding
- HHMI
- NIH [GM062967, GM110039]
- Telethon [GGP11182, GPP10005]
- Emilia-Romagna region program ER-MITO
- Fondazione Galletti
- MITOCON
- UMDF
- IFOND
- Struggling Within Leber's
- Poincenot Family
Ask authors/readers for more resources
Because of their high-energy metabolism, neurons are strictly dependent on mitochondria, which generate cellular ATP through oxidative phosphorylation. The mitochondrial genome encodes for critical components of the oxidative phosphorylation pathway machinery, and therefore, mutations in mitochondrial DNA (mtDNA) cause energy production defects that frequently have severe neurological manifestations. Here, we review the principles of mitochondrial genetics and focus on prototypical mitochondrial diseases to illustrate how primary defects in mtDNA or secondary defects in mtDNA due to nuclear genome mutations can cause prominent neurological and multisystem features. In addition, we discuss the pathophysiological mechanisms underlying mitochondrial diseases, the cellular mechanisms that protect mitochondrial integrity, and the prospects for therapy.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available