scholarly journals Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

2019 ◽  
Vol 42 (5) ◽  
pp. 909-917 ◽  
Author(s):  
Matias Wagner ◽  
Riccardo Berutti ◽  
Bettina Lorenz‐Depiereux ◽  
Elisabeth Graf ◽  
Gertrud Eckstein ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Exome Sequencing ◽  
Mutation Analysis ◽  
Mitochondrial Disease ◽  
Holistic Approach ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutation Analysis

scholarly journals Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors

2020 ◽  
Vol 10 ◽  
Author(s):  
Carlos Jhovani Pérez-Amado ◽  
Hugo Tovar ◽  
Laura Gómez-Romero ◽  
Fredy Omar Beltrán-Anaya ◽  
Verónica Bautista-Piña ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mitochondrial Dna ◽  
Mutation Analysis ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutation Analysis

Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis

2004 ◽  
Vol 243 (4) ◽  
pp. 380-382 ◽  
Author(s):  
Thorsten Okulla ◽  
Wolfram S. Kunz ◽  
Thomas Klockgether ◽  
Rolf Schröder ◽  
Cornelia Kornblum
Keyword(s):  
Mitochondrial Dna ◽  
Mutation Analysis ◽  
Diagnostic Value ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutation Analysis

Mitochondrial DNA mutation analysis in human skin fibroblasts from fetal, young, and old donors

2002 ◽  
Vol 123 (2-3) ◽  
pp. 155-166 ◽  
Author(s):  
Glenn S Gerhard ◽  
Floyd A Benko ◽  
R.G Allen ◽  
Maria Tresini ◽  
Anne Kalbach ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Human Skin ◽  
Mutation Analysis ◽  
Skin Fibroblasts ◽  
Human Skin Fibroblasts ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutation Analysis

scholarly journals Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease

Cells ◽  
2019 ◽  
Vol 8 (1) ◽  
pp. 65 ◽  
Author(s):  
Dar-Shong Lin ◽  
Yu-Wen Huang ◽  
Che-Sheng Ho ◽  
Pi-Lien Hung ◽  
Mei-Hsin Hsu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Cell Viability ◽  
Mitochondrial Disease ◽  
Cell Model ◽  
Ips Cells ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Dna Mutations ◽  
Cell Death Pathway ◽  
Induced Pluripotent

Dysfunction of mitochondria causes defects in oxidative phosphorylation system (OXPHOS) and increased production of reactive oxygen species (ROS) triggering the activation of the cell death pathway that underlies the pathogenesis of aging and various diseases. The process of autophagy to degrade damaged cytoplasmic components as well as dysfunctional mitochondria is essential for ensuring cell survival. We analyzed the role of autophagy inpatient-specific induced pluripotent stem (iPS) cells generated from fibroblasts of patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with well-characterized mitochondrial DNA mutations and distinct OXPHOS defects. MELAS iPS cells recapitulated the pathogenesis of MELAS syndrome, and showed an increase of autophagy in comparison with its isogenic normal counterpart, whereas mitophagy is very scarce at the basal condition. Our results indicated that the existence of pathogenic mtDNA alone in mitochondrial disease was not sufficient to elicit the degradation of dysfunctional mitochondria. Nonetheless, oxidative insults induced bulk macroautophagy with the accumulation of autophagosomes and autolysosomes upon marked elevation of ROS, overload of intracellular calcium, and robust depolarization of mitochondrial membrane potential, while mitochondria respiratory function was impaired and widespread mitophagy compromised cell viability. Collectively, our studies provide insights into the dysfunction of autophagy and activation of mitophagy contributing to the pathological mechanism of mitochondrial disease.

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

scholarly journals A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function

2017 ◽  
Vol 293 (4) ◽  
pp. 1425-1438 ◽  
Author(s):  
Mi Zhou ◽  
Ling Xue ◽  
Yaru Chen ◽  
Haiying Li ◽  
Qiufen He ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Structure And Function ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
And Function

A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function

Mitochondrion ◽  
2019 ◽  
Vol 46 ◽  
pp. 370-379 ◽  
Author(s):  
Ling Xue ◽  
Yaru Chen ◽  
Xiaowen Tang ◽  
Juan Yao ◽  
Huimin Huang ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Function ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation
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