Cytochrome C Oxidase Deficiency and Neuronal Involvement in Menkes' Kinky Hair Disease: Immunohistochemical Study

Marco Sparaco, Asao Hirano, Micho Hirano, Salvatore DiMauro, Eduardo Bonilla

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

Antibodies against subunits II and IV of cytochrome c oxidase (COX) and against complex III of the respiratory chain were used to study the expression of these proteins in the cerebellum, spinal cord, and other regions of the central nervous system in an autoptic case of Menkes' kinky hair disease (MKHD). We found a reduced expression of COX subunits in all examined areas whereas staining for complex III appeared normal. Immunostaining was altered in morphologically well‐preserved neurons, suggesting that COX deficiency may have a pathogenetic role in the neuronal degeneration of MKHD.

Original languageEnglish (US)
Pages (from-to)349-354
Number of pages6
JournalBrain Pathology
Volume3
Issue number4
DOIs
StatePublished - Oct 1993

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

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