Mitochondrial dysfunction in DDR-related cancer predisposition syndromes

• Published in: Biochimica et biophysica acta Vol. 1865; no. 2; pp. 184 - 189
• Main Authors: Lyakhovich, Alex, Graifer, Dmitry, Stefanovie, Barbora, Krejci, Lumir
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.04.2016
• Subjects: Autophagy; Cancer predisposition syndromes; DNA Damage; DNA damage and repair; Humans; Mitochondria - physiology; Mitochondrial dysfunction; Mitophagy; Neoplasms - etiology; Oxidative stress; ROS; Syndrome; Oxidative stress; Mitochondrial dysfunction; DNA damage and repair; Cancer predisposition syndromes; ROS; Mitophagy; Autophagy
• ISSN: 0304-419X; 0006-3002; 1879-2561
• DOI: 10.1016/j.bbcan.2016.02.006

Given the key role of mitochondria in various cellular events, it is not surprising that mitochondrial dysfunction (MDF) is seen in many pathological conditions, in particular cancer. The mechanisms defining MDF are not clearly understood and may involve genetic defects, misbalance of reactive oxygen species (ROS), impaired autophagy (mitophagy), acquired mutations in mitochondrial or nuclear DNA and inability of cells to cope with the consequences. The importance of MDF arises from its detection in the syndromes with defective DNA damage response (DDR) and cancer predisposition. Here, we will focus on the dual role of these syndromes in cancer predisposition and MDF with specific emphasis on impaired autophagy.