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Menkes kinky hair disease with 'ragged red' fibers
S Morgello1, H D Peterson, L J Kahn
1Department of Pathology (Neuropathology), New York Hospital-Cornell University Medical Center, NY 10021.
Abstract:
A 30-month-old infant with Menkes kinky-hair disease died, with prominent vascular, cerebral and cerebellar degeneration. Increased numbers of mitochondria containing homogeneous dense bodies were seen on electron-microscopic examination of Purkinje cells. Subsarcolemmal aggregates of mitochondria ('ragged red' fibers) were present in skeletal muscle. These mitochondrial alterations support the hypothesis that copper deficiency results in mitochondrial encephalomyopathy.
Insights
Menkes kinky-hair disease, a copper deficiency disorder, caused severe brain and cerebellum degeneration in an infant. Mitochondrial abnormalities in brain and muscle cells support copper deficiency leading to mitochondrial encephalomyopathy.
Area of Science:
- Neurology
- Pediatrics
- Mitochondrial Biology
Background:
- Menkes kinky-hair disease is a rare genetic disorder characterized by copper transport defects.
- The disease often leads to severe neurological impairment and early mortality.
- The precise cellular mechanisms underlying neurodegeneration in Menkes disease require further elucidation.