A novel recurrent mitochondrial DNA mutation inND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

2007 ◽  
Vol 143A (1) ◽  
pp. 33-41 ◽  
Author(s):  
Emmanuelle Sarzi ◽  
Michael D. Brown ◽  
Sophie Lebon ◽  
Dominique Chretien ◽  
Arnold Munnich ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Complex I ◽  
Leigh Syndrome ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Complex I Deficiency

scholarly journals A Novel ND3 Mitochondrial DNA Mutation in Three Korean Children With Basal Ganglia Lesions and Complex I Deficiency

2007 ◽  
Vol 61 (5, Part 1) ◽  
pp. 622-624 ◽  
Author(s):  
Jong Hee Chae ◽  
Jin Sook Lee ◽  
Ki Joong Kim ◽  
Yong Seung Hwang ◽  
Eduardo Bonilla ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Basal Ganglia ◽  
Complex I ◽  
Mitochondrial Dna Mutation ◽  
Korean Children ◽  
Dna Mutation ◽  
Complex I Deficiency

Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation

1997 ◽  
Vol 145 (1) ◽  
pp. 83-86 ◽  
Author(s):  
Jun-ichi Takanashi ◽  
Katsuo Sugita ◽  
Yuzo Tanabe ◽  
Tatsuo Maemoto ◽  
Hiroo Niimi
Keyword(s):  
Mitochondrial Dna ◽  
Leigh Syndrome ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Leigh syndrome T8993C mitochondrial DNA mutation: Heteroplasmy and the first clinical presentation in a Vietnamese family

2018 ◽  
Author(s):  
Chamara Weerasinghe ◽  
Bich‑Hong Bui ◽  
Thu Vu ◽  
Hong‑Loan Nguyen ◽  
Bao‑Khanh Phung ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Clinical Presentation ◽  
Leigh Syndrome ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Nuclear Suppression of Mitochondrial Defects in Cells without the ND6 Subunit

2006 ◽  
Vol 26 (3) ◽  
pp. 1077-1086 ◽  
Author(s):  
Jian-Hong Deng ◽  
Youfen Li ◽  
Jeong Soon Park ◽  
Jun Wu ◽  
Peiqing Hu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Complex I ◽  
Mouse Cell ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Nuclear Background ◽  
Mitochondrial Defects ◽  
Nd5 Gene ◽  
Respiratory Complex I ◽  
Complex I Assembly

ABSTRACT Previously, we characterized a mouse cell line, 4A, carrying a mitochondrial DNA mutation in the subunit for respiratory complex I, NADH dehydrogenase, in the ND6 gene. This mutation abolished the complex I assembly and disrupted the respiratory function of complex I. We now report here that a galactose-resistant clone, 4AR, was isolated from the cells carrying the ND6 mutation. 4AR still contained the homoplasmic mutation, and apparently there was no ND6 protein synthesis, whereas the assembly of other complex I subunits into complex I was recovered. Furthermore, the respiratory activity and mitochondrial membrane potential were fully recovered. To investigate the genetic origin of this compensation, the mitochondrial DNA (mtDNA) from 4AR was transferred to a new nuclear background. The transmitochondrial lines failed to grow in galactose medium. We further transferred mtDNA with a nonsense mutation at the ND5 gene to the 4AR nuclear background, and a suppression for mitochondrial deficiency was observed. Our results suggest that change(s) in the expression of a certain nucleus-encoded factor(s) can compensate for the absence of the ND6 or ND5 subunit.

scholarly journals Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation

2018 ◽  
Vol 26 (1) ◽  
pp. 7-12
Author(s):  
지나리 ◽  
이철호 ◽  
김세훈 ◽  
허선미 ◽  
이민정 ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Leigh Syndrome ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality

2004 ◽  
Vol 55 (5) ◽  
pp. 842-846 ◽  
Author(s):  
Marco Crimi ◽  
Alexandros Papadimitriou ◽  
Sara Galbiati ◽  
Phani Palamidou ◽  
Francesco Fortunato ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Leigh Syndrome ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Early Lethality
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