title: Damaged mitochondria in Fanconi anemia - an isolated event or a general phenomenon?
abstract: Fanconi anemia (FA) is known as an inherited bone marrow failure syndrome associated with cancer predisposition and susceptibility to a number of DNA damaging stimuli, along with a number of clinical features such as upper limb malformations, increased diabetes incidence and typical anomalies in skin pigmentation. The proteins encoded by FA-defective genes (FANC proteins) display well-established roles in DNA damage and repair pathways. Moreover, some independent studies have revealed that mitochondrial dysfunction (MDF) is also involved in FA phenotype. Unconfined to FA, we have shown that other syndromes featuring DNA damage and repair (such as ataxia-telangiectasia, AT, and Werner syndrome, WS) display MDF-related phenotypes, along with oxidative stress (OS) that, altogether, may play major roles in these diseases. Experimental and clinical studies are warranted in the prospect of future therapies to be focused on compounds scavenging reactive oxygen species (ROS) as well as protecting mitochondrial functions.
authors.affiliation: Italian National Cancer Institute, G Pascale Foundation, CROM, Mercogliano, AV, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pagano
authors.affiliation: Stem Cell and Molecular Biology laboratory, Department of Biotechnology, Indian Institute of Technology Madras, Chennai.
authors.forename: Pavithra
authors.initials: P
authors.lastname: Shyamsunder
authors.affiliation: Stem Cell and Molecular Biology laboratory, Department of Biotechnology, Indian Institute of Technology Madras, Chennai.
authors.forename: Rama S
authors.initials: RS
authors.lastname: Verma
authors.affiliation: Duke-NUS Graduate Medical School, Singapore ; Novosibirsk Institute of Molecular Biology and Biophysics, Russian Federation ; Queen's University Belfast, UK.
authors.forename: Alex
authors.initials: A
authors.lastname: Lyakhovich
keywords: DNA damage and repair; Fanconi anemia; mitochondrial dysfunction; oxidative stress; reactive oxygen species