Mitochondrial defects in transgenic mice expressing Cu,Zn Superoxide Dismutase mutations, the role of Copper Chaperone for SOD1

Marjatta Son, Jeffrey L. Elliott

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Several hypotheses have been proposed for the mechanisms underlying mutant Cu,Zn Superoxide Dismutase-related Amyotrophic Lateral Sclerosis. These include aggregation pathology, mitochondrial dysfunctions, oxidative stress, and glutamate-mediated excitotoxicity. Mitochondrial disease may be a primary event in neurodegeneration, contributing to oxidative stress and apoptosis, or it may be caused by other cellular processes. Mitochondrial structural abnormalities have been detected in the skeletal muscle, lymphoblast and central nervous system of Amyotrophic Lateral Sclerosis patients. The cause or even the extent of mitochondrial defects in spinal cord and brain of patients with Cu,Zn Superoxide Dismutase mutations is difficult to determine because of rapid mitochondrial deterioration in autopsy samples. The focus of this review is how abnormalities in Cu,Zn Superoxide Dismutase redox states, folding and metallation contribute to mitochondrial deficiencies, investigating the differences in mitochondrial defects observed among transgenic mice expressing various Cu,Zn Superoxide Dismutase mutations.

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalJournal of the Neurological Sciences
Volume336
Issue number1-2
DOIs
StatePublished - Jan 15 2014

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Transgenic Mice
Copper
Mutation
Amyotrophic Lateral Sclerosis
Oxidative Stress
Mitochondrial Diseases
Oxidation-Reduction
Glutamic Acid
Autopsy
Spinal Cord
Skeletal Muscle
Central Nervous System
Apoptosis
Pathology
Superoxide Dismutase-1
Brain

Keywords

  • Copper Chaperone for SOD1
  • Cu,Zn Superoxide Dismutase
  • Mitochondria
  • Mutation
  • Neurodegeneration
  • Transgenic mouse

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

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abstract = "Several hypotheses have been proposed for the mechanisms underlying mutant Cu,Zn Superoxide Dismutase-related Amyotrophic Lateral Sclerosis. These include aggregation pathology, mitochondrial dysfunctions, oxidative stress, and glutamate-mediated excitotoxicity. Mitochondrial disease may be a primary event in neurodegeneration, contributing to oxidative stress and apoptosis, or it may be caused by other cellular processes. Mitochondrial structural abnormalities have been detected in the skeletal muscle, lymphoblast and central nervous system of Amyotrophic Lateral Sclerosis patients. The cause or even the extent of mitochondrial defects in spinal cord and brain of patients with Cu,Zn Superoxide Dismutase mutations is difficult to determine because of rapid mitochondrial deterioration in autopsy samples. The focus of this review is how abnormalities in Cu,Zn Superoxide Dismutase redox states, folding and metallation contribute to mitochondrial deficiencies, investigating the differences in mitochondrial defects observed among transgenic mice expressing various Cu,Zn Superoxide Dismutase mutations.",
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