Ghent University Academic Bibliography

Advanced

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Boel De Paepe UGent, Joél Smet UGent, Juliaan Leroy, S Seneca, EDITH GEORGE, Dirk Matthys UGent, L Van Maldergem, E Scalais, W Lissens, L De Meirleir, et al. (2006) PEDIATRIC RESEARCH. 59(1). p.2-6
abstract
In the last decades, a large variety of oxidative phosphorylation (OXPHOS) defects have been reported, expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins involved, new screening techniques leading to more effective diagnostic routes are in ever-increasing demand. Cultured skin fibroblasts from a cohort of patients with various OXPHOS defects, previously recognized by enzyme activity studies and blue native PAGE, were investigated with an immunocytochemical technique. Cytospins of cultured fibroblasts were air dried, fixed, and stained with antibodies specifically directed against subunits of each OXPHOS complex. Control cells stained homogeneously and strongly. In fibroblasts from five out of seven patients with a severe deficiency of one of the OXPHOS complexes, a homogeneous reduction of cytoimmunoreactivity of the affected complex was observed. In five out of seven fibroblast strains harboring a mitochondrial tRNA mutation, a mosaic pattern of staining was observed for both complexes I and IV, reflecting the heteroplasmic nature of the defect. The proportion of deficient fibroblasts varied considerably between cell strains from different subjects. The method described offers a convenient and rapid approach to first-line screening of OXPHOS defects. In association with routine assays of enzyme activity, the technique is helpful in orienting molecular investigation further.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
COMPLEX-III DEFICIENCY, RESPIRATORY-CHAIN, MITOCHONDRIAL DISORDERS, LEIGH-SYNDROME, GENE, MUTATION, DISEASE, SURF-1, BCS1L
journal title
PEDIATRIC RESEARCH
Pediatr. Res.
volume
59
issue
1
pages
2 - 6
Web of Science type
Article
Web of Science id
000234275500002
JCR category
PEDIATRICS
JCR impact factor
2.619 (2006)
JCR rank
10/74 (2006)
JCR quartile
1 (2006)
ISSN
0031-3998
DOI
10.1203/01.pdr.0000191294.34122.ab
language
English
UGent publication?
yes
classification
A1
id
331063
handle
http://hdl.handle.net/1854/LU-331063
date created
2006-04-14 10:38:00
date last changed
2017-02-01 12:27:56
@article{331063,
  abstract     = {In the last decades, a large variety of oxidative phosphorylation (OXPHOS) defects have been reported, expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins involved, new screening techniques leading to more effective diagnostic routes are in ever-increasing demand. Cultured skin fibroblasts from a cohort of patients with various OXPHOS defects, previously recognized by enzyme activity studies and blue native PAGE, were investigated with an immunocytochemical technique. Cytospins of cultured fibroblasts were air dried, fixed, and stained with antibodies specifically directed against subunits of each OXPHOS complex. Control cells stained homogeneously and strongly. In fibroblasts from five out of seven patients with a severe deficiency of one of the OXPHOS complexes, a homogeneous reduction of cytoimmunoreactivity of the affected complex was observed. In five out of seven fibroblast strains harboring a mitochondrial tRNA mutation, a mosaic pattern of staining was observed for both complexes I and IV, reflecting the heteroplasmic nature of the defect. The proportion of deficient fibroblasts varied considerably between cell strains from different subjects. The method described offers a convenient and rapid approach to first-line screening of OXPHOS defects. In association with routine assays of enzyme activity, the technique is helpful in orienting molecular investigation further.},
  author       = {De Paepe, Boel and Smet, Jo{\'e}l and Leroy, Juliaan and Seneca, S and GEORGE, EDITH and Matthys, Dirk and Van Maldergem, L and Scalais, E and Lissens, W and De Meirleir, L and Meulemans, A and Van Coster, Rudy},
  issn         = {0031-3998},
  journal      = {PEDIATRIC RESEARCH},
  keyword      = {COMPLEX-III DEFICIENCY,RESPIRATORY-CHAIN,MITOCHONDRIAL DISORDERS,LEIGH-SYNDROME,GENE,MUTATION,DISEASE,SURF-1,BCS1L},
  language     = {eng},
  number       = {1},
  pages        = {2--6},
  title        = {Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects},
  url          = {http://dx.doi.org/10.1203/01.pdr.0000191294.34122.ab},
  volume       = {59},
  year         = {2006},
}

Chicago
De Paepe, Boel, Joél Smet, Juliaan Leroy, S Seneca, EDITH GEORGE, Dirk Matthys, L Van Maldergem, et al. 2006. “Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects.” Pediatric Research 59 (1): 2–6.
APA
De Paepe, Boel, Smet, J., Leroy, J., Seneca, S., GEORGE, E., Matthys, D., Van Maldergem, L., et al. (2006). Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects. PEDIATRIC RESEARCH, 59(1), 2–6.
Vancouver
1.
De Paepe B, Smet J, Leroy J, Seneca S, GEORGE E, Matthys D, et al. Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects. PEDIATRIC RESEARCH. 2006;59(1):2–6.
MLA
De Paepe, Boel, Joél Smet, Juliaan Leroy, et al. “Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects.” PEDIATRIC RESEARCH 59.1 (2006): 2–6. Print.