Human diseases range from gene-associated to gene-non-associated disorders, including age-related diseases, neurodegenerative, neuromuscular, cardiovascular, diabetic diseases, neurocognitive disorders and cancer. Mitochondria participate to the cascades of pathogenic events leading to the onset and progression of these diseases independently of their association to mutations of genes encoding mitochondrial protein. Under physiological conditions, the mitochondrial ATP synthase provides the most energy of the cell via the oxidative phosphorylation. Alterations of oxidative phosphorylation mainly affect the tissues characterized by a high-energy metabolism, such as nervous, cardiac and skeletal muscle tissues. In this review, we focus on human diseases caused by altered expressions of ATP synthase genes of both mitochondrial and nuclear origin. Moreover, we describe the contribution of ATP synthase to the pathophysiological mechanisms of other human diseases such as cardiovascular, neurodegenerative diseases or neurocognitive disorders.

Galber, C., Carissimi, S., Baracca, A., Giorgio, V. (2021). The ATP Synthase Deficiency in Human Diseases. LIFE, 11(4), 1-19 [10.3390/life11040325].

The ATP Synthase Deficiency in Human Diseases

Galber, Chiara
Primo
Membro del Collaboration Group
;
Baracca, Alessandra;Giorgio, Valentina
Ultimo
Funding Acquisition
2021

Abstract

Human diseases range from gene-associated to gene-non-associated disorders, including age-related diseases, neurodegenerative, neuromuscular, cardiovascular, diabetic diseases, neurocognitive disorders and cancer. Mitochondria participate to the cascades of pathogenic events leading to the onset and progression of these diseases independently of their association to mutations of genes encoding mitochondrial protein. Under physiological conditions, the mitochondrial ATP synthase provides the most energy of the cell via the oxidative phosphorylation. Alterations of oxidative phosphorylation mainly affect the tissues characterized by a high-energy metabolism, such as nervous, cardiac and skeletal muscle tissues. In this review, we focus on human diseases caused by altered expressions of ATP synthase genes of both mitochondrial and nuclear origin. Moreover, we describe the contribution of ATP synthase to the pathophysiological mechanisms of other human diseases such as cardiovascular, neurodegenerative diseases or neurocognitive disorders.
2021
Galber, C., Carissimi, S., Baracca, A., Giorgio, V. (2021). The ATP Synthase Deficiency in Human Diseases. LIFE, 11(4), 1-19 [10.3390/life11040325].
Galber, Chiara; Carissimi, Stefania; Baracca, Alessandra; Giorgio, Valentina
File in questo prodotto:
File Dimensione Formato  
life-11-00325-v2.pdf

accesso aperto

Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 1.4 MB
Formato Adobe PDF
1.4 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/853519
Citazioni
  • ???jsp.display-item.citation.pmc??? 11
  • Scopus 28
  • ???jsp.display-item.citation.isi??? 27
social impact