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

25 Citations (Scopus)

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
StatePublished - 1993

Fingerprint

Cytochrome-c Oxidase Deficiency
Menkes Kinky Hair Syndrome
Electron Transport Complex III
Oxidoreductases
Electron Transport Complex IV
Electron Transport
Cerebellum
Spinal Cord
Central Nervous System
Staining and Labeling
Neurons
Antibodies
Proteins

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)

Cite this

Sparaco, M., Hirano, A., Hirano, M., DiMauro, S., & Bonilla, E. (1993). Cytochrome C oxidase deficiency and neuronal involvement in Menkes' Kinky hair disease: Immunohistochemical study. Brain Pathology, 3(4), 349-354.

Cytochrome C oxidase deficiency and neuronal involvement in Menkes' Kinky hair disease : Immunohistochemical study. / Sparaco, Marco; Hirano, Asao; Hirano, Micho; DiMauro, Salvatore; Bonilla, Eduardo.

In: Brain Pathology, Vol. 3, No. 4, 1993, p. 349-354.

Research output: Contribution to journalArticle

Sparaco, M, Hirano, A, Hirano, M, DiMauro, S & Bonilla, E 1993, 'Cytochrome C oxidase deficiency and neuronal involvement in Menkes' Kinky hair disease: Immunohistochemical study', Brain Pathology, vol. 3, no. 4, pp. 349-354.
Sparaco, Marco ; Hirano, Asao ; Hirano, Micho ; DiMauro, Salvatore ; Bonilla, Eduardo. / Cytochrome C oxidase deficiency and neuronal involvement in Menkes' Kinky hair disease : Immunohistochemical study. In: Brain Pathology. 1993 ; Vol. 3, No. 4. pp. 349-354.
@article{f20fb10f07bc4da2a010db2a68fca953,
title = "Cytochrome C oxidase deficiency and neuronal involvement in Menkes' Kinky hair disease: Immunohistochemical study",
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.",
author = "Marco Sparaco and Asao Hirano and Micho Hirano and Salvatore DiMauro and Eduardo Bonilla",
year = "1993",
language = "English (US)",
volume = "3",
pages = "349--354",
journal = "Brain Pathology",
issn = "1015-6305",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Cytochrome C oxidase deficiency and neuronal involvement in Menkes' Kinky hair disease

T2 - Immunohistochemical study

AU - Sparaco, Marco

AU - Hirano, Asao

AU - Hirano, Micho

AU - DiMauro, Salvatore

AU - Bonilla, Eduardo

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027372207&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027372207&partnerID=8YFLogxK

M3 - Article

VL - 3

SP - 349

EP - 354

JO - Brain Pathology

JF - Brain Pathology

SN - 1015-6305

IS - 4

ER -