PMID- 37316759
OWN - NLM
STAT- MEDLINE
DCOM- 20230811
LR  - 20230811
IS  - 1559-1182 (Electronic)
IS  - 0893-7648 (Linking)
VI  - 60
IP  - 9
DP  - 2023 Sep
TI  - Role of Mutations of Mitochondrial Aminoacyl-tRNA Synthetases Genes on 
      Epileptogenesis.
PG  - 5482-5492
LID - 10.1007/s12035-023-03429-1 [doi]
AB  - Mitochondria are the structures in cells that are responsible for producing 
      energy. They contain a specific translation unit for synthesizing 
      mitochondria-encoded respiratory chain components: the mitochondrial DNA (mt 
      DNA). Recently, a growing number of syndromes associated with the dysfunction of 
      mt DNA translation have been reported. However, the functions of these diseases 
      still need to be precise and thus attract much attention. Mitochondrial tRNAs (mt 
      tRNAs) are encoded by mt DNA; they are the primary cause of mitochondrial 
      dysfunction and are associated with a wide range of pathologies. Previous 
      research has shown the role of mt tRNAs in the epileptic mechanism. This review 
      will focus on the function of mt tRNA and the role of mitochondrial 
      aminoacyl-tRNA synthetase (mt aaRS) in order to summarize some common relevant 
      mutant genes of mt aaRS that cause epilepsy and the specific symptoms of the 
      disease they cause.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer Science+Business 
      Media, LLC, part of Springer Nature.
FAU - Kong, Ling-Yue
AU  - Kong LY
AD  - Department of Physiology, School of Basic Medical Sciences, Wuhan University, 
      Wuhan, China.
FAU - Wu, Yi-Ze
AU  - Wu YZ
AD  - Department of Physiology, School of Basic Medical Sciences, Wuhan University, 
      Wuhan, China.
FAU - Cheng, Run-Qi
AU  - Cheng RQ
AD  - Department of Physiology, School of Basic Medical Sciences, Wuhan University, 
      Wuhan, China.
FAU - Wang, Pei-Han
AU  - Wang PH
AD  - Department of Physiology, School of Basic Medical Sciences, Wuhan University, 
      Wuhan, China.
FAU - Peng, Bi-Wen
AU  - Peng BW
AUID- ORCID: 0000-0002-5599-6779
AD  - Department of Physiology, School of Basic Medical Sciences, Wuhan University, 
      Wuhan, China. pengbiwen@whu.edu.cn.
AD  - Department of Physiology, Hubei Provincial Key Laboratory of Developmentally 
      Originated Disease, School of Basic Medical Sciences, Wuhan University, Donghu 
      Rd185#, Wuhan, 430071, Hubei, China. pengbiwen@whu.edu.cn.
LA  - eng
GR  - 82171452/Natural Science Foundation of China/
GR  - 82060588/Natural Science Foundation of China/
GR  - ZNJC202230/Translational Medicine and Interdisciplinary Research Joint Fund of 
      Zhongnan Hospital of Wuhan University/
GR  - ZY2023Z018/Major projects of Hubei province administration of traditional Chinese 
      medicine/
PT  - Journal Article
PT  - Review
DEP - 20230614
PL  - United States
TA  - Mol Neurobiol
JT  - Molecular neurobiology
JID - 8900963
RN  - EC 6.1.1.- (Amino Acyl-tRNA Synthetases)
RN  - 9014-25-9 (RNA, Transfer)
SB  - IM
MH  - Humans
MH  - *Amino Acyl-tRNA Synthetases/genetics/metabolism
MH  - Mutation/genetics
MH  - Mitochondria/metabolism
MH  - Protein Biosynthesis
MH  - *Epilepsy/pathology
MH  - RNA, Transfer/genetics/metabolism
OTO - NOTNLM
OT  - Aminoacyl-tRNA synthetase
OT  - Epilepsy
OT  - Mitochondrial disorders
OT  - Mitochondrial tRNA
EDAT- 2023/06/15 01:08
MHDA- 2023/08/11 06:42
CRDT- 2023/06/14 23:30
PHST- 2023/02/01 00:00 [received]
PHST- 2023/06/05 00:00 [accepted]
PHST- 2023/08/11 06:42 [medline]
PHST- 2023/06/15 01:08 [pubmed]
PHST- 2023/06/14 23:30 [entrez]
AID - 10.1007/s12035-023-03429-1 [pii]
AID - 10.1007/s12035-023-03429-1 [doi]
PST - ppublish
SO  - Mol Neurobiol. 2023 Sep;60(9):5482-5492. doi: 10.1007/s12035-023-03429-1. Epub 
      2023 Jun 14.