期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 276, 期 1-2, 页码 170-174出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2008.09.030
关键词
Amyotrophic lateral sclerosis; Motor neuron; Mitochondria; SOD1
资金
- MIUR
- Cariplo Foundation
- Fondazione Telethon Funding Source: Custom
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative motor neuron disorder. Mutations in Cu,Zn superoxide dismutase (SOD]) cause approximately 20% of familial ALS. One of the possible mechanisms whereby they induce disease is mitochondrial dysfunction in motor neurons. Here we describe a patient with ALS and muscle mitochondrial oxidative defect associated with a novel SOD1 Mutation. Direct sequencing of SOD1 gene revealed a heterozygous mutation in codon 22 substituting a highly conserved amino acid, from glutamine to arginine (Q22R). Muscle biopsy showed a neurogenic pattern associated with cytochrome c oxidase (COX) deficiency in several muscle fibers. Western blot analysis demonstrated a reduction in SOD1 content in the cytoplasmic and mitochondrial fractions. These results suggest that a minute quantity of mutant SOD1 protein contributes to a mitochondrial toxicity also in muscle tissue. (C) 2008 Elsevier B.V. All rights reserved.
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