. Author manuscript; available in PMC: 2014 Jan 21.

Published in final edited form as: Nat Rev Drug Discov. 2013 May 13;12(6):465–483. doi: 10.1038/nrd4023

Table 2. Selected rare diseases associated with mitochondrial dysfunction^*.

Gene	Gene function	Clinical description
Parkin PARK7 (also known as DJ1) PINK1	Mitophagy and/or mitochondrial dynamics	Early onset form of Parkinson’s disease, characterized by tremor, bradykinesia, rigidity and postural instability
FXN	Mitochondrial iron metabolism	Friedreich’s ataxia, characterized by difficulties in coordinating movements, associated with neurological signs, cardiomyopathy and (sometimes) type 1 diabetes
Paraplegin	Mitochondrial protease	Spastic paraplegia; characterized by progressive spasticity and weakness of the lower legs owing to axonal degeneration
HSP60	Mitochondrial quality control, mitochondrial UPR

FXN, frataxin; HSP60, mitochondrial chaperonin heat shock protein 60; PARK7, Parkinson’s disease protein 7; PINK1, PTEN-induced putative kinase 1; UPR, unfolded protein response.

Nuclear DNA only.

Table 2. Selected rare diseases associated with mitochondrial dysfunction*.

Table 2. Selected rare diseases associated with mitochondrial dysfunction^*.