Do mitochondrial DNA mutations have a role in neurodegenerative disease?

2007 ◽  
Vol 35 (5) ◽  
pp. 1232-1235 ◽  
Author(s):  
K.J. Krishnan ◽  
A.K. Reeve ◽  
D.M. Turnbull
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Neurodegenerative Disease ◽  
Mitochondrial Function ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
A Cell ◽  
Eventual Death ◽  
Secondary Consequence

A decline in mitochondrial function has long been shown to exist in neurodegenerative disease. Whether this decline is a secondary consequence of other factors or whether it causes the eventual death of a cell is unknown. In this review, we will discuss some of the major evidence surrounding mitochondrial DNA mutations leading to mitochondrial dysfunction in neurodegenerative disease and discuss their possible role in neurodegeneration.

scholarly journals Addressing RNA Integrity to Determine the Impact of Mitochondrial DNA Mutations on Brain Mitochondrial Function with Age

PLoS ONE ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. e96940 ◽  
Author(s):  
Wei Wang ◽  
Katja Scheffler ◽  
Ying Esbensen ◽  
Janne M. Strand ◽  
James B. Stewart ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Function ◽  
Rna Integrity ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
The Impact ◽  
Brain Mitochondrial Function

scholarly journals Mitochondrial Mutations

2011 ◽  
Vol 17 (6) ◽  
pp. 645-658 ◽  
Author(s):  
Nichola Z. Lax ◽  
Doug M. Turnbull ◽  
Amy K. Reeve
Keyword(s):  
Mitochondrial Dna ◽  
Neurodegenerative Diseases ◽  
Neurodegenerative Disease ◽  
Targeted Therapies ◽  
Neurological Diseases ◽  
Cell Loss ◽  
Mitochondrial Metabolism ◽  
Mitochondrial Mutations ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

Mutations in mitochondrial DNA cause a number of neurological diseases with defined neuropathology; however, mutations in this genome have also been found to be important in a number of more common neurodegenerative diseases. In this review, the authors discuss the importance of mitochondrial DNA mutations in a number of different diseases and speculate how such mutations could lead to cell loss. Increasing our understanding of how mitochondrial DNA mutations affect mitochondrial metabolism and subsequently result in neurodegenerative disease will prove vital to the development of targeted therapies and treatments.

Role of mitochondrial dysfunction and mitochondrial DNA mutations in age-related hearing loss

2007 ◽  
Vol 226 (1-2) ◽  
pp. 185-193 ◽  
Author(s):  
Tatsuya Yamasoba ◽  
Shinichi Someya ◽  
Chikako Yamada ◽  
Richard Weindruch ◽  
Tomas A. Prolla ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Age Related ◽  
Age Related Hearing Loss

scholarly journals Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis

Cell Research ◽  
2009 ◽  
Vol 19 (7) ◽  
pp. 802-815 ◽  
Author(s):  
Jianxin Lu ◽  
Lokendra Kumar Sharma ◽  
Yidong Bai
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

scholarly journals Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations

1996 ◽  
Vol 318 (2) ◽  
pp. 401-407 ◽  
Author(s):  
Andrew M JAMES ◽  
Yau-Huei WEI ◽  
Cheng-Yoong PANG ◽  
Michael P. MURPHY
Keyword(s):  
Mitochondrial Dna ◽  
Membrane Potential ◽  
Mitochondrial Membrane Potential ◽  
Mitochondrial Function ◽  
Mitochondrial Membrane ◽  
Trna Genes ◽  
Primary Fibroblast ◽  
Cultured Fibroblasts ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations

A number of human diseases are caused by inherited mitochondrial DNA mutations. Two of these diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA. Here we report on how these mutations affect mitochondrial function in primary fibroblast cultures established from a MELAS patient containing an A to G mutation at nucleotide 3243 in the tRNALeu(UUR) gene and a MERRF patient containing an A to G mutation at nucleotide 8344 in the tRNALys gene. Both mitochondrial membrane potential and respiration rate were significantly decreased in digitonin-permeabilized MELAS and MERRF fibroblasts respiring on glutamate/malate. A similar decrease in mitochondrial membrane potential was found in intact MELAS and MERRF fibroblasts. The mitochondrial content of these cells, estimated by stereological analysis of electron micrographs and from measurement of mitochondrial marker enzymes, was similar in control, MELAS and MERRF cells. Therefore, in cultured fibroblasts, mutation of mitochondrial tRNA genes leads to assembly of bioenergetically incompetent mitochondria, not to an alteration in their amount. However, the cell volume occupied by secondary lysosomes and residual bodies in the MELAS and MERRF cells was greater than in control cells, suggesting increased mitochondrial degradation in these cells. In addition, fibroblasts containing mitochondrial DNA mutations were 3–4-fold larger than control fibroblasts. The implications of these findings for the pathology of mitochondrial diseases are discussed.

scholarly journals Mitochondrial DNA Mutations Induce Mitochondrial Dysfunction, Apoptosis and Sarcopenia in Skeletal Muscle of Mitochondrial DNA Mutator Mice

PLoS ONE ◽  
2010 ◽  
Vol 5 (7) ◽  
pp. e11468 ◽  
Author(s):  
Asimina Hiona ◽  
Alberto Sanz ◽  
Gregory C. Kujoth ◽  
Reinald Pamplona ◽  
Arnold Y. Seo ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Mitochondrial Dna ◽  
Mitochondrial Dysfunction ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations
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