PMID- 36813318
OWN - NLM
STAT- MEDLINE
DCOM- 20230224
LR  - 20230224
IS  - 0072-9752 (Print)
IS  - 0072-9752 (Linking)
VI  - 194
DP  - 2023
TI  - Experimental therapy for mitochondrial diseases.
PG  - 259-277
LID - B978-0-12-821751-1.00013-0 [pii]
LID - 10.1016/B978-0-12-821751-1.00013-0 [doi]
AB  - Mitochondrial diseases are extremely heterogeneous genetic disorders due to 
      faulty oxidative phosphorylation (OxPhos). No cure is currently available for 
      these conditions, beside supportive interventions aimed at relieving 
      complications. Mitochondria are under a double genetic control carried out by the 
      mitochondrial DNA (mtDNA) and by nuclear DNA. Thus, not surprisingly, mutations 
      in either genome can cause mitochondrial disease. Although mitochondria are 
      usually associated with respiration and ATP synthesis, they play fundamental 
      roles in a large number of other biochemical, signaling, and execution pathways, 
      each being a potential target for therapeutic interventions. These can be 
      classified as general therapies, i.e., potentially applicable to a number of 
      different mitochondrial conditions, or therapies tailored to a single disease, 
      i.e., personalized approaches, such as gene therapy, cell therapy, and organ 
      replacement. Mitochondrial medicine is a particularly lively research field, and 
      the last few years witnessed a steady increase in the number of clinical 
      applications. This chapter will present the most recent therapeutic attempts 
      emerged from preclinical work and an update of the currently ongoing clinical 
      applications. We think that we are starting a new era in which the etiologic 
      treatment of these conditions is becoming a realistic option.
CI  - Copyright (c) 2023 Elsevier B.V. All rights reserved.
FAU - Viscomi, Carlo
AU  - Viscomi C
AD  - Department of Biomedical Sciences, University of Padova, Padova, Italy. 
      Electronic address: carlo.viscomi@unipd.it.
FAU - Zeviani, Massimo
AU  - Zeviani M
AD  - Department of Neurosciences, University of Padova, Padova, Italy; Venetian 
      Institute of Molecular Medicine, Padova, Italy. Electronic address: 
      massimo.zeviani@unipd.it.
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - Handb Clin Neurol
JT  - Handbook of clinical neurology
JID - 0166161
RN  - 0 (DNA, Mitochondrial)
SB  - IM
MH  - Humans
MH  - *Mitochondrial Diseases/genetics
MH  - Mitochondria/genetics
MH  - DNA, Mitochondrial/genetics
MH  - Mutation
MH  - Therapies, Investigational
OTO - NOTNLM
OT  - AAV
OT  - Gene therapy
OT  - Mitochondrial biogenesis
OT  - Mitochondrial disease
OT  - Mitophagy
OT  - OxPhos
OT  - Rapamycin
COIS- Declaration of interests None.
EDAT- 2023/02/23 06:00
MHDA- 2023/02/25 06:00
CRDT- 2023/02/22 20:56
PHST- 2023/02/22 20:56 [entrez]
PHST- 2023/02/23 06:00 [pubmed]
PHST- 2023/02/25 06:00 [medline]
AID - B978-0-12-821751-1.00013-0 [pii]
AID - 10.1016/B978-0-12-821751-1.00013-0 [doi]
PST - ppublish
SO  - Handb Clin Neurol. 2023;194:259-277. doi: 10.1016/B978-0-12-821751-1.00013-0.