Golgi study on brain of macular mutant mouse as a model of Menkes kinky hair disease.
This study was undertaken to elucidate, using the Golgi method, the neuropathological change in the brain of the macular mutant mouse, whose hemizygote (Ml/y) is considered to be a model of Menkes kinky hair disease (MKHD). The hemizygote mice gradually lost weight after 10 days of age and died with emaciation and seizure around day 15. The normal littermate (+/y) was well developed. In the cerebrum, the arborization of pyramidal neurons in the layer V of the Ml/y was the same as that in the +/y on day 10. However, development of arborization in the Ml/y was delayed in comparison with that in the +/y on days 12 and 14. Purkinje cells with several somal sprouts were observed in the cerebellum in both the Ml/y and +/y on day 7. The somal sprouts in the +/y had regressed gradually by day 12, while they were still in the anterior and middle lobes of the Ml/y on day 14. Additionally, the trunks of Ml/y stem dendrites became thicker and a cactus formation was recognized on the branching portion of the dendrites on day 14. Arborization of these abnormal Purkinje cells was distinctly poor compared with that in the +/y. These results suggest that the growth of the neurons is delayed in the Ml/y and simultaneously their cytoskeletal developments are disturbed, especially in the Purkinje cells. There is a close similarity in many respects to the neuropathological change in MKHD.
D000818:Animals; D001928:Brain Diseases, Metabolic / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology*; D005260:Female; D005838:Genotype; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D051379:Mice; D008818:Mice, Neurologic Mutants; D011689:Purkinje Cells / Q000473:pathology*