Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome

1991 ◽  
Vol 81 (3) ◽  
pp. 318-323 ◽  
Author(s):  
E. Byrne ◽  
I. Trounce ◽  
S. Marzuki ◽  
X. Dennett ◽  
S. F. Berkovic ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Respiratory Chain ◽  
Mitochondrial Cytopathies ◽  
Ragged Red Fibers ◽  
Myoclonus Epilepsy ◽  
Mitochondrial Dna Heteroplasmy ◽  
Merrf Syndrome

Myoclonus epilepsy and ragged-red fibers: blood mitochondrial DNA heteroplasmy in affected and asymptomatic members of a family

1993 ◽  
Vol 88 (6) ◽  
pp. 406-409 ◽  
Author(s):  
G. Piccolo ◽  
F. Focher ◽  
A. Verri ◽  
S. Spadari ◽  
P. Banfi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Ragged Red Fibers ◽  
Myoclonus Epilepsy ◽  
Mitochondrial Dna Heteroplasmy

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers

Neurology ◽  
1999 ◽  
Vol 52 (2) ◽  
pp. 377-377 ◽  
Author(s):  
J. Arenas ◽  
Y. Campos ◽  
B. Bornstein ◽  
R. Ribacoba ◽  
M. A. Martin ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Double Mutation ◽  
Ragged Red Fibers ◽  
Myoclonus Epilepsy

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene

1994 ◽  
Vol 17 (1) ◽  
pp. 52-57 ◽  
Author(s):  
Wan Fang ◽  
Chin-Chang Huang ◽  
Nai-Shun Chu ◽  
Cheng-Chun Lee ◽  
Rou-Shayn Chen ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Myoclonic Epilepsy ◽  
Chinese Family ◽  
Ragged Red Fibers ◽  
Merrf Syndrome ◽  
Syndrome Report

Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case

2006 ◽  
Vol 21 (1) ◽  
pp. 79-82 ◽  
Author(s):  
Simona Orcesi ◽  
Ksenija Gorni ◽  
Cristiano Termine ◽  
Carla Uggetti ◽  
Pierangelo Veggiotti ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Ragged Red Fibers ◽  
Myoclonus Epilepsy

333-LB: Impact of Aging on Mitochondrial Respiratory Chain Expression and Pancreatic Islet Cell Composition by Using a Mitochondrial DNA Mutator Mouse Model

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 333-LB
Author(s):  
XUEFEI YU ◽  
CATHERINE ARDEN ◽  
CHUN CHEN ◽  
CARLA BRADSHAW ◽  
JULIA WHITEHALL ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mouse Model ◽  
Respiratory Chain ◽  
Pancreatic Islet ◽  
Islet Cell ◽  
Mitochondrial Respiratory Chain ◽  
Pancreatic Islet Cell ◽  
Cell Composition ◽  
Mitochondrial Respiratory

scholarly journals Mitochondrial DNA Heteroplasmy as an Informational Reservoir Dynamically Linked to Metabolic and Immunological Processes Associated with COVID-19 Neurological Disorders

2021 ◽  
Author(s):  
George B. Stefano ◽  
Richard M. Kream
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Function ◽  
Neurological Disorders ◽  
Nuclear Dna ◽  
Mitochondrial Dynamics ◽  
Cell Types ◽  
Tissue Specific ◽  
Copy Numbers ◽  
The Central Nervous System ◽  
Mitochondrial Dna Heteroplasmy

AbstractMitochondrial DNA (mtDNA) heteroplasmy is the dynamically determined co-expression of wild type (WT) inherited polymorphisms and collective time-dependent somatic mutations within individual mtDNA genomes. The temporal expression and distribution of cell-specific and tissue-specific mtDNA heteroplasmy in healthy individuals may be functionally associated with intracellular mitochondrial signaling pathways and nuclear DNA gene expression. The maintenance of endogenously regulated tissue-specific copy numbers of heteroplasmic mtDNA may represent a sensitive biomarker of homeostasis of mitochondrial dynamics, metabolic integrity, and immune competence. Myeloid cells, monocytes, macrophages, and antigen-presenting dendritic cells undergo programmed changes in mitochondrial metabolism according to innate and adaptive immunological processes. In the central nervous system (CNS), the polarization of activated microglial cells is dependent on strategically programmed changes in mitochondrial function. Therefore, variations in heteroplasmic mtDNA copy numbers may have functional consequences in metabolically competent mitochondria in innate and adaptive immune processes involving the CNS. Recently, altered mitochondrial function has been demonstrated in the progression of coronavirus disease 2019 (COVID-19) due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Accordingly, our review is organized to present convergent lines of empirical evidence that potentially link expression of mtDNA heteroplasmy by functionally interactive CNS cell types to the extent and severity of acute and chronic post-COVID-19 neurological disorders.

scholarly journals Mitochondrial DNA mutations and respiratory chain dysfunction in idiopathic and connective tissue disease-related lung fibrosis

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Veronika K. Jaeger ◽  
Dirk Lebrecht ◽  
Andrew G. Nicholson ◽  
Athol Wells ◽  
Harshil Bhayani ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Respiratory Chain ◽  
Lung Fibrosis ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations
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