scholarly journals Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation.

1994 ◽  
Vol 57 (12) ◽  
pp. 1545-1546 ◽  
Author(s):  
H Hara ◽  
Y Wakayama ◽  
Y Kouno ◽  
H Yamada ◽  
M Tanaka ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Peripheral Neuropathy ◽  
Lactic Acidosis ◽  
Mitochondrial Dna Mutation ◽  
Severe Lactic Acidosis ◽  
Dna Mutation

A Novel Mitochondrial DNA Mutation inCOX1Leads to Strokes, Seizures, and Lactic Acidosis

2008 ◽  
Vol 39 (06) ◽  
pp. 328-334 ◽  
Author(s):  
E. W. Y. Tam ◽  
A. Feigenbaum ◽  
J. B. L. Addis ◽  
S. Blaser ◽  
N. MacKay ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1995 ◽  
Vol 18 (S14) ◽  
pp. S113-S118 ◽  
Author(s):  
Shuji Mita ◽  
Makoto Tokunaga ◽  
Toshihide Kumamoto ◽  
Makoto Uchino ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Muscle Pathology ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome

2021 ◽  
pp. 1-4
Author(s):  
Fatima Farid Mir ◽  
Anjan Madasu ◽  
Hani Humad ◽  
Asim Noor Rana
Keyword(s):  
Bone Marrow ◽  
Mitochondrial Dna ◽  
Metabolic Acidosis ◽  
Lactic Acidosis ◽  
Liver Failure ◽  
Bone Marrow Failure ◽  
Disease Course ◽  
Bone Marrow Failure Syndrome ◽  
Severe Lactic Acidosis ◽  
End Stage

Fifteen-month-old male child, known to have a congenital bone marrow failure syndrome, presented in a state of shock with severe lactic acidosis following a brief episode of vomiting. Hospital stay was complicated by recurrent bouts of metabolic acidosis and progressive hepatic failure. Blood mitochondrial DNA sequencing revealed a large heteroplasmic 4,977 bp mitochondrial deletion (approximately 40% of all mitochondrial copies) suggestive of Pearson marrow-pancreas syndrome. By virtue of natural disease course, within a month of admission child succumbed to end-stage liver failure with multi-organ failure and died.

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