scholarly journals Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation

2005 ◽  
Vol 89 (10) ◽  
pp. 1380-1381 ◽  
Author(s):  
K K Abu-Amero
Keyword(s):  
Mitochondrial Dna ◽  
Complex I ◽  
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.

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

Analysis of the mitochondrial proteome of cybrid cells harbouring a truncative mitochondrial DNA mutation in respiratory complex I

2014 ◽  
Vol 10 (6) ◽  
pp. 1313 ◽  
Author(s):  
Clara Musicco ◽  
Antonella Cormio ◽  
Maria Antonietta Calvaruso ◽  
Luisa Iommarini ◽  
Giuseppe Gasparre ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Complex I ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Mitochondrial Proteome ◽  
Respiratory Complex ◽  
Respiratory Complex I

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

scholarly journals The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy

2001 ◽  
Vol 9 (4) ◽  
pp. 311-315 ◽  
Author(s):  
Maurizia Grasso ◽  
Marta Diegoli ◽  
Agnese Brega ◽  
Carlo Campana ◽  
Luigi Tavazzi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dilated Cardiomyopathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Intramyocellular lipid excess in the mitochondrial disorder MELAS

2017 ◽  
Vol 3 (3) ◽  
pp. e160 ◽  
Author(s):  
Sailaja Golla ◽  
Jimin Ren ◽  
Craig R. Malloy ◽  
Juan M. Pascual
Keyword(s):  
Mitochondrial Dna ◽  
Fat Metabolism ◽  
Mitochondrial Disorder ◽  
Scientific Investigation ◽  
Resonance Spectroscopy ◽  
Lipid Deposition ◽  
Metabolic Dysfunction ◽  
Intramyocellular Lipid ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Objective:There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation.Methods:To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids.Results:In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity.Conclusions:These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

2009 ◽  
Vol 390 (3) ◽  
pp. 755-757 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
George S. Korres ◽  
Elisabeth Ferekidou ◽  
Eleftheria Papadopoulou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation
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