The ATP Synthase Deficiency in Human Diseases

Life

Valentina Giorgio¹  Stefania Carissimi¹  Chiara Galber¹  Alessandra Baracca² 

[1] Consiglio Nazionale delle Ricerche, Institute of Neuroscience, I-35121 Padova, Italy;Department of Biomedical and Neuromotor Sciences, University of Bologna, I-40126 Bologna, Italy;

关键词: ATP synthase;    human disease;    mitochondria;   

DOI  :  10.3390/life11040325

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown