Immuno-cytochemical and immuno-histochemical findings in patients with mtDNA depletion.

Boél De Paepe, Joél Smet, Sara Seneca, Willy Lissens, Linda De Meirleir, Frank Roels, Rudy Van Coster

Research output: Chapter in Book/Report/Conference proceedingMeeting abstract (Book)

Abstract

Aims: mtDNA depletion is a prevalent cause of multiple OXPHOS deficiency. The depletion, however, is tissue specific and the clinical phenotype is heterogeneous. Therefore, the diagnosis can be difficult. We investigated the role of immuno-staining techniques in the diagnosis and evaluated for common and specific features.
Methods: Cultured skin fibroblasts and liver tissue from one patient with DGUOK (P1) and five patients with POLG (P2-6) mutation were retrospectively evaluated for their immuno-cytochemical and immuno-histochemical staining patterns for OXPHOS complexes I to V.
Results: Spectrophotometric analysis showed normal OXPHOS activities in the cultured skin fibroblasts of all patients. However, in the cell cultures from three patients a mosaic of immuno-negative and immuno-positive fibroblasts was found: complex I and complex IV mosaicism in P4 and P6, complex I mosaicism in P5. Fibroblasts from three patients (P1-P3) displayed normal immuno-staining patterns. Spectrophotometric analysis of liver tissue showed combined OXPHOS deficiencies and preserved complex II activity. Immuno-histochemical staining was carried out in liver from P2, P3 and P5. All three displayed a mosaic staining pattern for complex I and IV, with positive and negative hepatocytes found alongside, in contrast to homogeneous complex II staining. In these patients, histochemical staining confirmed the mosaicism for COX activity in hepatocytes.
Conclusions: Although mtDNA depletion is a frequent cause of multiple OXPHOS deficiency, diagnosis can be difficult as standard spectrophotometric analysis of OXPHOS complex activities can be normal. Our data show that the implementation of immuno-detection of OXPHOS proteins can be an additional tool to successfully identify patients with mtDNA depletion.
Original languageEnglish
Title of host publicationEuromit7, Stockholm, Sweden
Pages37-37
Number of pages1
Publication statusPublished - 11 Jun 2008
EventFinds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet - Stockholm, Sweden
Duration: 21 Sep 200925 Sep 2009

Conference

ConferenceFinds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet
Country/TerritorySweden
CityStockholm
Period21/09/0925/09/09

Keywords

  • Immuno-cytochemical findings
  • immuno-histochemical findings
  • mtDNA depletion

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