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

Fingerprint

Mitochondrial Diseases
Oxidative Phosphorylation
Mitochondrial Proton-Translocating ATPases
Cultured Cells
Adenosine Triphosphate
Cells
Mitochondria
Biopsy
Fibroblasts
Electron Transport
Muscle
Molecular Biology
Skin
Screening
Tissue
Muscles
Defects

Keywords

  • Complex V activity
  • Mitochondrial disorders
  • OXPHOS

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

Cite this

Assaying ATP synthesis in cultured cells : A valuable tool for the diagnosis of patients with mitochondrial disorders. / Rizza, Teresa; Vazquez-Memije, Martha Elisa; Meschini, Maria Chiara; Bianchi, Marzia; Tozzi, Giulia; Nesti, Claudia; Piemonte, Fiorella; Bertini, Enrico; Santorelli, Filippo Maria; Carrozzo, Rosalba.

In: Biochemical and Biophysical Research Communications, Vol. 383, No. 1, 22.05.2009, p. 58-62.

Research output: Contribution to journalArticle

@article{71ff9672c9b845afba36b8d12fc80dc2,
title = "Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders",
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.",
keywords = "Complex V activity, Mitochondrial disorders, OXPHOS",
author = "Teresa Rizza and Vazquez-Memije, {Martha Elisa} and Meschini, {Maria Chiara} and Marzia Bianchi and Giulia Tozzi and Claudia Nesti and Fiorella Piemonte and Enrico Bertini and Santorelli, {Filippo Maria} and Rosalba Carrozzo",
year = "2009",
month = "5",
day = "22",
doi = "10.1016/j.bbrc.2009.03.121",
language = "English",
volume = "383",
pages = "58--62",
journal = "Biochemical and Biophysical Research Communications",
issn = "0006-291X",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Assaying ATP synthesis in cultured cells

T2 - A valuable tool for the diagnosis of patients with mitochondrial disorders

AU - Rizza, Teresa

AU - Vazquez-Memije, Martha Elisa

AU - Meschini, Maria Chiara

AU - Bianchi, Marzia

AU - Tozzi, Giulia

AU - Nesti, Claudia

AU - Piemonte, Fiorella

AU - Bertini, Enrico

AU - Santorelli, Filippo Maria

AU - Carrozzo, Rosalba

PY - 2009/5/22

Y1 - 2009/5/22

N2 - 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.

AB - 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.

KW - Complex V activity

KW - Mitochondrial disorders

KW - OXPHOS

UR - http://www.scopus.com/inward/record.url?scp=64949152112&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=64949152112&partnerID=8YFLogxK

U2 - 10.1016/j.bbrc.2009.03.121

DO - 10.1016/j.bbrc.2009.03.121

M3 - Article

C2 - 19332025

AN - SCOPUS:64949152112

VL - 383

SP - 58

EP - 62

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

SN - 0006-291X

IS - 1

ER -