Mitochondrial disease in superoxide dismutase 2 mutant mice

Mutant superoxide dismutase 1 forms aggregates in the brain mitochondrial matrix of amyotrophic lateral sclerosis mice.

An increasing body of evidence suggests that mitochondrial dysfunction plays an important role in the pathogenesis of familial amyotrophic lateral sclerosis associated with "gain of function" mutations in Cu/Zn superoxide dismutase 1 (SOD1). SOD1 is mostly a cytosolic protein, but a portion of SOD1 is localized in mitochondria of patients with familial amyotrophic lateral sclerosis and transgen...

Mitochondrial alterations in transgenic mice with an H46R mutant Cu/Zn superoxide dismutase gene.

We examined morphological alterations in the mitochondria in the spinal cord of H46R mutant Cu/Zn superoxide dismutase transgenic mice; these mice serve as a model for human familial amyotrophic lateral sclerosis. The disease in the mice is characterized by initial muscle weakness and atrophy in the legs, very long clinical courses, and widespread pathological changes of the spinal cord that ex...

Mutant mice, Cu,Zn superoxide dismutase, and motor neuron degeneration.

Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1.

Mutant human CuZn-superoxide dismutases (hSOD1s) cause amyotrophic lateral sclerosis (ALS). The most common mutation is the wild type-like D90A and to explore its properties, transgenic mice were generated and compared with mice expressing wild-type hSOD1. D90A hSOD1 was both in vivo in mice and in vitro under denaturing conditions nearly as stable as the wild-type human enzyme. It appeared les...

Age-dependent mitochondrial energy dynamics in the mice heart: Role of superoxide dismutase-2

The aging process alters cardiac physiology, decreases the number of cardiomyocytes and alters the energy metabolism. Mitochondrial dysfunction in aging is believed to cause these functional and phenotypic changes in the heart. Although precise understanding of alterations of mitochondrial respiration in aging is necessary to manage heart diseases in the elderly population conflicting data on t...