Activities per year
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.
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 language | English |
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Title of host publication | Euromit7, Stockholm, Sweden |
Pages | 37-37 |
Number of pages | 1 |
Publication status | Published - 11 Jun 2008 |
Event | Finds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet - Stockholm, Sweden Duration: 21 Sep 2009 → 25 Sep 2009 |
Conference
Conference | Finds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet |
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Country/Territory | Sweden |
City | Stockholm |
Period | 21/09/09 → 25/09/09 |
Keywords
- Immuno-cytochemical findings
- immuno-histochemical findings
- mtDNA depletion
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- 1 Participation in conference
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Euromit 7, European meeting on mitochondrial pathology.
Sara Seneca (Participant)
11 Jun 2008 → 14 Jun 2008Activity: Participating in or organising an event › Participation in conference