Novel mitochondrial DNA mutations in Parkinson's disease

2002 ◽  
Vol 109 (5-6) ◽  
pp. 721-729 ◽  
Author(s):  
G. Richter ◽  
A. Sonnenschein ◽  
T. Grünewald ◽  
H. Reichmann ◽  
B. Janetzky
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

scholarly journals Pink1/Parkin link inflammation, mitochondrial stress, and neurodegeneration

2018 ◽  
Vol 217 (10) ◽  
pp. 3327-3329 ◽  
Author(s):  
Laura E. Newman ◽  
Gerald S. Shadel
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Neurodegenerative Diseases ◽  
Mitochondrial Stress ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Age Related ◽  
Sting Pathway

What causes inflammation in age-related neurodegenerative diseases remains a mystery. Sliter et al. (2018. Nature. https://doi.org/10.1038/s41586-018-0448-9) show that, when damaged mitochondria cannot be removed by mitophagy, stress from exercise or mitochondrial DNA mutations activates the proinflammatory cGAS–STING pathway that may contribute to Parkinson’s disease.

scholarly journals Mitochondrial DNA mutations in Parkinson's disease brain

2017 ◽  
Vol 5 (1) ◽  
Author(s):  
David K. Simon ◽  
Joanne Clark Matott ◽  
Janaina Espinosa ◽  
Neeta A. Abraham
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson’s disease

2004 ◽  
Vol 25 (1) ◽  
pp. 71-81 ◽  
Author(s):  
David K Simon ◽  
Michael T Lin ◽  
Leiya Zheng ◽  
Guang-Jun Liu ◽  
Colette H Ahn ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Substantia Nigra ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease

Neurology ◽  
2000 ◽  
Vol 54 (3) ◽  
pp. 703-703 ◽  
Author(s):  
D. K. Simon ◽  
R. Mayeux ◽  
K. Marder ◽  
N. W. Kowall ◽  
M. F. Beal ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Complex I ◽  
Trna Genes ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

scholarly journals Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson's Disease?

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Joanne Clark ◽  
Ying Dai ◽  
David K. Simon
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Point Mutations ◽  
Premature Aging ◽  
Mtdna Mutations ◽  
Dna Mutations ◽  
Mitochondrial Dna Polymerase ◽  
Mitochondrial Defect

A great deal of evidence supports a role for mitochondrial dysfunction in the pathogenesis of Parkinson's disease (PD), although the origin of the mitochondrial dysfunction in PD remains unclear. Expression of mitochondrial DNA (mtDNA) from PD patients in “cybrid” cell lines recapitulates the mitochondrial defect, implicating a role for mtDNA mutations, but the specific mutations responsible for the mitochondrial dysfunction in PD have been difficult to identify. Somatic mtDNA point mutations and deletions accumulate with age and reach high levels in substantia nigra (SN) neurons. Mutations in mitochondrial DNA polymeraseγ(POLG) that lead to the accumulation of mtDNA mutations are associated with a premature aging phenotype in “mutator” mice, although overt parkinsonism has not been reported in these mice, and with parkinsonism in humans. Together these data support, but do not yet prove, the hypothesis that the accumulation of somatic mtDNA mutations in SN neurons contribute to the pathogenesis of PD.

The Effect of Mitochondrial DNA Mutations in Brain Tumors

2019 ◽  
Author(s):  
Zübeyde Erbayraktar ◽  
Zeynep Haşimoğlu ◽  
R. Serhat Erbayraktar
Keyword(s):  
Mitochondrial Dna ◽  
Brain Tumors ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations
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