Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

American Association for the Advancement of Science (AAAS) - Tập 264 Số 5166 - Trang 1772-1775 - 1994
Mark E. Gurney1,2, Haifeng Eishingdrelo1,2, Arlene Y. Chiu3, Mauro C. Dal Canto4, Cynthia Y. Polchow5, Denise D. Alexander1,2, Janice Caliendo6,2, Afif Hentati6,2, Young W. Kwon1,2, Han‐Xiang Deng6,2, Wenje Chen6,2, Ping Zhai1,2, Robert Sufit6,2, Teepu Siddique6,2
1Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, IL 60611, USA
2Northwestern University Institute of Neuroscience, Northwestern University Medical School, Chicago, IL 60611, USA.
3Division of Neurosciences, Beckman Research Institute of the City of Hope Medical Center, CA 91010, USA.
4Department of Pathology, Northwestern University Medical School, Chicago, IL 60611 USA
5Department of Physiology, Northwestern University Medical School, Chicago, IL 60611, USA
6Department of Neurology, Northwestern University Medical School, Chicago, IL 60611 USA

Tóm tắt

Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93—a change that has little effect on enzyme activity—caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.

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American Association for the Advancement of Science (AAAS)

Tập 264 Số 5166

1772-1775

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