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The Macular Mutant Mouse as a Model of Menkes' Kinky Hair Disease and Pathology on Its Cerebellar Purkinje Cell
Author(s) -
Yamano Tsunekazu,
Xu GuiQin,
Shimada Morimi
Publication year - 1993
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1111/j.1440-1789.1993.tb00214.x
Subject(s) - purkinje cell , cerebellum , menkes disease , biology , pathology , abnormality , cytochrome c oxidase , mitochondrion , neuroscience , microbiology and biotechnology , medicine , chemistry , copper metabolism , organic chemistry , copper , psychiatry
The macular mutant mouse is well known as a model of Menkes kinky hair disease (MKHD). This paper was presented to elucidate the pathogenesis of cerebellar Purkinje cell abnormalities of MKHD using this model mouse. The neuropathological changes on the Purkinje cells of this mouse were composed of somal sprout, somal spine, focal dendritic swelling, delay of arborization, abnormal mitochondria, abnormal inclusions, and low cytochrome c oxidase activity. Most of them were improved in the hemizygote treated with cupric chloride. These abnormal Purkinje cells were not distributed in a mosaic pattern in the cerebellum of the heterozygote. Hence, most of them resulted from copper deficiency in the cerebellum, and not from gene abnormality in the Purkinje cell.