scholarly journals Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study

2017 ◽  
Vol 5 (12) ◽  
pp. 2034-2039
Author(s):  
Tina Dysgaard Jeppesen ◽  
Noor Al-Hashimi ◽  
Morten Duno ◽  
Flemming Wibrand ◽  
Grete Andersen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies

2002 ◽  
Vol 9 (6) ◽  
pp. 527-533 ◽  
Author(s):  
Chin-Chang Huang ◽  
Hung-Chou Kuo ◽  
Chen-Che Chu ◽  
Chia-Wei Liou ◽  
Yi-Shing Ma ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Clinical Phenotype ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Mitochondrial Encephalomyopathies ◽  
Dna Mutation

scholarly journals Muscle Phenotype and Mutation Load in 51 Persons With the 3243A>G Mitochondrial DNA Mutation

2006 ◽  
Vol 63 (12) ◽  
pp. 1701 ◽  
Author(s):  
Tina D. Jeppesen ◽  
Marianne Schwartz ◽  
Anja L. Frederiksen ◽  
Flemming Wibrand ◽  
David B. Olsen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Trophectoderm is predictive of the inner cell mass and newborn mitochondrial DNA mutation load

2012 ◽  
Vol 98 (3) ◽  
pp. S58
Author(s):  
N.R. Treff ◽  
X. Tao ◽  
J. Campos ◽  
K.M. Ferry ◽  
B. Levy ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Inner Cell Mass ◽  
Cell Mass ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Single-cell A3243G Mitochondrial DNA Mutation Load Assays for Segregation Analysis

2007 ◽  
Vol 55 (11) ◽  
pp. 1159-1166 ◽  
Author(s):  
Roshan S. Jahangir Tafrechi ◽  
Frans M. van de Rijke ◽  
Amin Allallou ◽  
Chatarina Larsson ◽  
Willem C. R. Sloos ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Single Cell ◽  
Segregation Analysis ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Quantification of mitochondrial DNA mutation load

Aging Cell ◽  
2009 ◽  
Vol 8 (5) ◽  
pp. 566-572 ◽  
Author(s):  
Laura C. Greaves ◽  
Nina E. Beadle ◽  
Geoffrey A. Taylor ◽  
Daniel Commane ◽  
John C. Mathers ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

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.

Sign in / Sign up

Export Citation Format

Share Document