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.
authors.affiliation: Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Rizza
authors.forename: Martha Elisa
authors.initials: ME
authors.lastname: Vazquez-Memije
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Meschini
authors.forename: Marzia
authors.initials: M
authors.lastname: Bianchi
authors.forename: Giulia
authors.initials: G
authors.lastname: Tozzi
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.forename: Fiorella
authors.initials: F
authors.lastname: Piemonte
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo