Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit

Sion Llewelyn Williams, Hans R. Scholte, R. George F Gray, James V. Leonard, Anthony H V Schapira, Jan Willem Taanman

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Conventional approaches to the diagnosis of mitochondrial respiratory chain diseases, using enzyme assays and histochemistry, are laborious and give limited information concerning the genetic basis of a deficiency. We have evaluated the diagnostic value of 12 monocional antibodies to subunits of the four respiratory chain enzyme complexes and F 1F 0-ATP synthase. Antibodies were used in immunological studies with skin fibroblast cultures derived from patients with diverse mitochondrial diseases, including patients in which the disease was caused by a nuclear genetic defect and patients known to harbor a heteroplasmic mutation in a mitochondrial tRNA gene. Immunoblotting experiments permitted the identification of specific enzyme assembly deficits and immunocytochemical studies provided clues regarding the genetic origin of the disease. The immunological findings were in agreement with the biochemical and genetic data of the patients. Our study demonstrates that characterization of the fibroblast cultures with the monoclonal antibodies provides a convenient technique to complement biochemical assays and histochemistry in the diagnosis of mitochondrial respiratory chain disorders.

Original languageEnglish
Pages (from-to)1069-1077
Number of pages9
JournalLaboratory Investigation
Volume81
Issue number8
StatePublished - Sep 1 2001
Externally publishedYes

Fingerprint

Electron Transport
Fibroblasts
Mitochondrial Diseases
Inborn Genetic Diseases
Mitochondrial Genes
Antibodies
Enzyme Assays
Enzymes
Transfer RNA
Immunoblotting
Molecular Biology
Adenosine Triphosphate
Monoclonal Antibodies
Skin
Mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Williams, S. L., Scholte, H. R., Gray, R. G. F., Leonard, J. V., Schapira, A. H. V., & Taanman, J. W. (2001). Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit. Laboratory Investigation, 81(8), 1069-1077.

Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit. / Williams, Sion Llewelyn; Scholte, Hans R.; Gray, R. George F; Leonard, James V.; Schapira, Anthony H V; Taanman, Jan Willem.

In: Laboratory Investigation, Vol. 81, No. 8, 01.09.2001, p. 1069-1077.

Research output: Contribution to journalArticle

Williams, SL, Scholte, HR, Gray, RGF, Leonard, JV, Schapira, AHV & Taanman, JW 2001, 'Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit', Laboratory Investigation, vol. 81, no. 8, pp. 1069-1077.
Williams, Sion Llewelyn ; Scholte, Hans R. ; Gray, R. George F ; Leonard, James V. ; Schapira, Anthony H V ; Taanman, Jan Willem. / Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit. In: Laboratory Investigation. 2001 ; Vol. 81, No. 8. pp. 1069-1077.
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