Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders

Teresa Rizza, Martha Elisa Vazquez-Memije, Maria Chiara Meschini, Marzia Bianchi, Giulia Tozzi, Claudia Nesti, Fiorella Piemonte, Enrico Bertini, Filippo Maria Santorelli, Rosalba Carrozzo

Research output: Contribution to journalArticle

Abstract

Mitochondrial ATP synthase plays a central role in cell function by synthesising most of the ATP in human tissues. In different cells, active regulation of mitochondrial ATP synthase in response to cellular energy demand has been demonstrated, as well as its alteration under several pathological conditions affecting oxidative phosphorylation (OXPHOS). Traditionally, detection of OXPHOS defects is based on the spectrophotometric measurement of respiratory chain complex activities in muscle biopsies. Considering the broad clinical spectrum of mitochondrial disorders, and the difficulty in arriving at a single diagnostic method, in this study we propose measurement of ATP synthesis in mitochondria from skin fibroblasts as an effective screening tool. In the light of our results this assessment emerges as a useful marker of impaired energy production in primary OXPHOS disorders of childhood and as a tool with the potential to drive further molecular genetic studies.

Original languageEnglish
Pages (from-to)58-62
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume383
Issue number1
DOIs
Publication statusPublished - May 22 2009

Keywords

  • Complex V activity
  • Mitochondrial disorders
  • OXPHOS

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

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