scholarly journals Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

2006 ◽  
Vol 43 (10) ◽  
pp. 788-792 ◽  
Author(s):  
C Bouchet ◽  
J Steffann ◽  
J Corcos ◽  
S Monnot ◽  
V Paquis ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Prenatal Diagnosis ◽  
Lactic Acidosis ◽  
Dna Segregation

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 Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division

2015 ◽  
Vol 25 (4) ◽  
pp. 706-714 ◽  
Author(s):  
Riikka Jokinen ◽  
Paula Marttinen ◽  
James B. Stewart ◽  
T. Neil Dear ◽  
Brendan J. Battersby
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Division ◽  
Tissue Specific ◽  
Dna Segregation

scholarly journals A Novel Mutation in the Mitochondrial DNA CytochromebGene (MTCYB)in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

2012 ◽  
Vol 28 (2) ◽  
pp. 236-242 ◽  
Author(s):  
Valentina Emmanuele ◽  
Evangelia Sotiriou ◽  
Purificación Gutierrez Rios ◽  
Jaya Ganesh ◽  
Rebecca Ichord ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Novel Mutation ◽  
Mitochondrial Encephalomyopathy

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: A mitochondrial DNA depletion disorder

2011 ◽  
Vol 102 (2) ◽  
pp. 149-152 ◽  
Author(s):  
Linda M. Randolph ◽  
Hollie A. Jackson ◽  
Jing Wang ◽  
Hiroyuki Shimada ◽  
Pedro A. Sanchez-Lara ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Homozygous Mutation ◽  
Mitochondrial Dna Depletion

MELAS without Ragged Red Fibers or Lactic Acidosis Diagnosed by Mitochondrial DNA Testing

1993 ◽  
Vol 47 (3) ◽  
pp. 637-641 ◽  
Author(s):  
Hiroshi Ujike ◽  
Toshio Wakagi ◽  
Ichiro Kohira ◽  
Shigetoshi Kuroda ◽  
Saburo Otsuki ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Dna Testing ◽  
Ragged Red Fibers

scholarly journals Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

2016 ◽  
Vol 113 (30) ◽  
pp. E4276-E4285 ◽  
Author(s):  
Gokhan Akman ◽  
Radha Desai ◽  
Laura J. Bailey ◽  
Takehiro Yasukawa ◽  
Ilaria Dalla Rosa ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Control Region ◽  
Mitochondrial Disease ◽  
Genetic Information ◽  
Disease Mechanism ◽  
Dna Segregation ◽  
D Loop ◽  
Mitochondrial Dna Replication ◽  
Pathological Variant ◽  
Potential Substrate

The genetic information in mammalian mitochondrial DNA is densely packed; there are no introns and only one sizeable noncoding, or control, region containing key cis-elements for its replication and expression. Many molecules of mitochondrial DNA bear a third strand of DNA, known as “7S DNA,” which forms a displacement (D-) loop in the control region. Here we show that many other molecules contain RNA as a third strand. The RNA of these R-loops maps to the control region of the mitochondrial DNA and is complementary to 7S DNA. Ribonuclease H1 is essential for mitochondrial DNA replication; it degrades RNA hybridized to DNA, so the R-loop is a potential substrate. In cells with a pathological variant of ribonuclease H1 associated with mitochondrial disease, R-loops are of low abundance, and there is mitochondrial DNA aggregation. These findings implicate ribonuclease H1 and RNA in the physical segregation of mitochondrial DNA, perturbation of which represents a previously unidentified disease mechanism.

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